(used for variant description)
(last modified June 2, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_003024.2 in the ITSN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000021.8, covering ITSN1 transcript NM_003024.2.
(upstream sequence)
. . g.5028
gagcgagggagggagcgaaggaggtaga c.-241
. . . . . . g.5088
gaagagtggaggcgccaggggagggagcgtagcttggttgctccgtagtacggcggctcg c.-181
. . . . . . g.5148
cgaggaagaatcccgagcgggctccgggacggacagagaggcgggcggggatggtgtgcg c.-121
. . . . . . g.5208
gggctgcggctcctgcgtccctcccagcggcgcgtgagcggcactgatttgtccctgggg c.-61
. . . | 02. . . g.81350
cggcagcgcggacccgcccggagatgag | gcgtcgattagcaaggtaaaagtaacagaacc c.-1
. . | 03 . . . g.83731
ATGGCTCAGTTTCCAACACCTTTTGGTG | GCAGCCTGGATATCTGGGCCATAACTGTAGAG c.60
M A Q F P T P F G G | S L D I W A I T V E p.20
. . . . . . g.83791
GAAAGAGCGAAGCATGATCAGCAGTTCCATAGTTTAAAGCCAATATCTGGATTCATTACT c.120
E R A K H D Q Q F H S L K P I S G F I T p.40
| 04 . . . . . . g.85168
G | GTGATCAAGCTAGAAACTTTTTTTTTCAATCTGGGTTACCTCAACCTGTTTTAGCACAG c.180
G | D Q A R N F F F Q S G L P Q P V L A Q p.60
| 05 . . . . . . g.97620
ATATG | GGCACTAGCTGACATGAATAATGATGGAAGAATGGATCAAGTGGAGTTTTCCATA c.240
I W | A L A D M N N D G R M D Q V E F S I p.80
. . . . . . g.97680
GCTATGAAACTTATCAAACTGAAGCTACAAGGATATCAGCTACCCTCTGCACTTCCCCCT c.300
A M K L I K L K L Q G Y Q L P S A L P P p.100
. . . . | 06 . . g.112678
GTCATGAAACAGCAACCAGTTGCTATTTCTAGCGCACCAGCATTTG | GTATGGGAGGTATC c.360
V M K Q Q P V A I S S A P A F G | M G G I p.120
. . . . . . g.112738
GCCAGCATGCCACCGCTTACAGCTGTTGCTCCAGTGCCAATGGGATCCATTCCAGTTGTT c.420
A S M P P L T A V A P V P M G S I P V V p.140
. . . . . . g.112798
GGAATGTCTCCAACCCTAGTATCTTCTGTTCCCACAGCAGCTGTGCCCCCCCTGGCTAAC c.480
G M S P T L V S S V P T A A V P P L A N p.160
. . . . | 07 . . g.114345
GGGGCTCCCCCTGTTATACAACCTCTGCCTGCATTTGCTCATCCTG | CAGCCACATTGCCA c.540
G A P P V I Q P L P A F A H P A | A T L P p.180
. . . . . . g.114405
AAGAGTTCTTCCTTTAGTAGATCTGGTCCAGGGTCACAACTAAACACTAAATTACAAAAG c.600
K S S S F S R S G P G S Q L N T K L Q K p.200
. . | 08 . . . . g.117855
GCACAGTCATTTGATGTGGCCAG | TGTCCCACCAGTGGCAGAGTGGGCTGTTCCTCAGTCA c.660
A Q S F D V A S | V P P V A E W A V P Q S p.220
. . . . . . g.117915
TCAAGACTGAAATACAGGCAATTATTCAATAGTCATGACAAAACTATGAGTGGACACTTA c.720
S R L K Y R Q L F N S H D K T M S G H L p.240
| 09 . . . . . . g.124499
ACAG | GTCCCCAAGCAAGAACTATTCTTATGCAGTCAAGTTTACCACAGGCTCAGCTGGCT c.780
T G | P Q A R T I L M Q S S L P Q A Q L A p.260
| 10 . . . . . g.128447
TCAATATG | GAATCTTTCTGACATTGATCAAGATGGAAAACTTACAGCAGAGGAATTTATC c.840
S I W | N L S D I D Q D G K L T A E E F I p.280
. . . . . . g.128507
CTGGCAATGCACCTCATTGATGTAGCTATGTCTGGCCAACCACTGCCACCTGTCCTGCCT c.900
L A M H L I D V A M S G Q P L P P V L P p.300
. . | 11 . . . . g.130267
CCAGAATACATTCCACCTTCTTTTAG | AAGAGTTCGATCTGGCAGTGGTATATCTGTCATA c.960
P E Y I P P S F R | R V R S G S G I S V I p.320
. . . . . . g.130327
AGCTCAACATCTGTAGATCAGAGGCTACCAGAGGAACCAGTTTTAGAAGATGAACAACAA c.1020
S S T S V D Q R L P E E P V L E D E Q Q p.340
. . | 12 . . . . g.134619
CAATTAGAAAAGAAATTACCTG | TAACGTTTGAAGATAAGAAGCGGGAGAACTTTGAACGT c.1080
Q L E K K L P V | T F E D K K R E N F E R p.360
. . . . . . g.134679
GGCAACCTGGAACTGGAGAAACGAAGGCAAGCTCTCCTGGAACAGCAGCGCAAGGAGCAG c.1140
G N L E L E K R R Q A L L E Q Q R K E Q p.380
. . . . . . g.134739
GAGCGCCTGGCCCAGCTGGAGCGGGCGGAGCAGGAGAGGAAGGAGCGTGAGCGCCAGGAG c.1200
E R L A Q L E R A E Q E R K E R E R Q E p.400
. . . . . . g.134799
CAAGAGCGCAAAAGACAACTGGAACTGGAGAAGCAACTGGAAAAGCAGCGGGAGCTAGAA c.1260
Q E R K R Q L E L E K Q L E K Q R E L E p.420
. . . . | 13 . . g.137264
CGGCAGAGAGAGGAGGAGAGGAGGAAAGAAATTGAGAGGCGAGAG | GCTGCAAAACGGGAA c.1320
R Q R E E E R R K E I E R R E | A A K R E p.440
. . . . . . g.137324
CTTGAAAGGCAACGACAACTTGAGTGGGAACGGAATCGAAGGCAAGAACTACTAAATCAA c.1380
L E R Q R Q L E W E R N R R Q E L L N Q p.460
. . . . . . g.137384
AGAAACAAAGAACAAGAGGACATAGTTGTACTGAAAGCAAAGAAAAAGACTTTGGAATTT c.1440
R N K E Q E D I V V L K A K K K T L E F p.480
. | 14 . . . . . g.137533
GAATTAGAAGCTCTA | AATGATAAAAAGCATCAACTAGAAGGGAAACTTCAAGATATCAGA c.1500
E L E A L | N D K K H Q L E G K L Q D I R p.500
. . . . . . g.137593
TGTCGATTGACCACCCAAAGGCAAGAAATTGAGAGCACAAACAAATCTAGAGAGTTGAGA c.1560
C R L T T Q R Q E I E S T N K S R E L R p.520
. . . | 15 . . . g.144005
ATTGCCGAAATCACCCATCTACAGCAACAATTACAG | GAATCTCAGCAAATGCTTGGAAGA c.1620
I A E I T H L Q Q Q L Q | E S Q Q M L G R p.540
. . . . . . g.144065
CTTATTCCAGAAAAACAGATACTCAATGACCAATTAAAACAAGTTCAGCAGAACAGTTTG c.1680
L I P E K Q I L N D Q L K Q V Q Q N S L p.560
| 16 . . . . . . g.144570
CACA | GAGATTCACTTGTTACACTTAAAAGAGCCTTAGAAGCAAAAGAACTAGCTCGGCAG c.1740
H R | D S L V T L K R A L E A K E L A R Q p.580
. . . . . . g.144630
CACCTACGAGACCAACTGGATGAAGTGGAGAAAGAAACTAGATCAAAACTACAGGAGATT c.1800
H L R D Q L D E V E K E T R S K L Q E I p.600
. . | 17 . . . . g.156897
GATATTTTCAATAATCAGCTGAAG | GAACTAAGAGAAATACACAATAAGCAACAACTCCAG c.1860
D I F N N Q L K | E L R E I H N K Q Q L Q p.620
. . . . . . g.156957
AAGCAAAAGTCCATGGAGGCTGAACGACTGAAACAGAAAGAACAAGAACGAAAGATCATA c.1920
K Q K S M E A E R L K Q K E Q E R K I I p.640
. . . | 18 . . . g.159927
GAATTAGAAAAACAAAAAGAAGAAGCCCAAAG | ACGAGCTCAGGAAAGGGACAAGCAGTGG c.1980
E L E K Q K E E A Q R | R A Q E R D K Q W p.660
. . . . . . g.159987
CTGGAGCATGTGCAGCAGGAGGACGAGCATCAGAGACCAAGAAAACTCCACGAAGAGGAA c.2040
L E H V Q Q E D E H Q R P R K L H E E E p.680
. . . . . . g.160047
AAACTGAAAAGGGAGGAGAGTGTCAAAAAGAAGGATGGCGAGGAAAAAGGCAAACAGGAA c.2100
K L K R E E S V K K K D G E E K G K Q E p.700
. . . . . . g.160107
GCACAAGACAAGCTGGGTCGGCTTTTCCATCAACACCAAGAACCAGCTAAGCCAGCTGTC c.2160
A Q D K L G R L F H Q H Q E P A K P A V p.720
. . | 19 . . . . g.162366
CAGGCACCCTGGTCCACTGCAG | AAAAAGGTCCACTTACCATTTCTGCACAGGAAAATGTA c.2220
Q A P W S T A E | K G P L T I S A Q E N V p.740
. . . . . . g.162426
AAAGTGGTGTATTACCGGGCACTGTACCCCTTTGAATCCAGAAGCCATGATGAAATCACT c.2280
K V V Y Y R A L Y P F E S R S H D E I T p.760
. . | 20 . | 21 . . g.173516
ATCCAGCCAGGAGACATAGTCATG | GTTAAAGGGGAATGG | GTGGATGAAAGCCAAACTGGA c.2340
I Q P G D I V M | V K G E W | V D E S Q T G p.780
. . . . . . g.173576
GAACCCGGCTGGCTTGGAGGAGAATTAAAAGGAAAGACAGGGTGGTTCCCTGCAAACTAT c.2400
E P G W L G G E L K G K T G W F P A N Y p.800
. . . . . . g.173636
GCAGAGAAAATCCCAGAAAATGAGGTTCCCGCTCCAGTGAAACCAGTGACTGATTCAACA c.2460
A E K I P E N E V P A P V K P V T D S T p.820
. . . . . . g.173696
TCTGCCCCTGCCCCCAAACTGGCCTTGCGTGAGACCCCCGCCCCTTTGGCAGTAACCTCT c.2520
S A P A P K L A L R E T P A P L A V T S p.840
. . . . | 22. . g.176446
TCAGAGCCCTCCACGACCCCTAATAACTGGGCCGACTTCAGCTCCAC | GTGGCCCACCAGC c.2580
S E P S T T P N N W A D F S S T | W P T S p.860
. . . . . . g.176506
ACGAATGAGAAACCAGAAACGGATAACTGGGATGCATGGGCAGCCCAGCCCTCTCTCACC c.2640
T N E K P E T D N W D A W A A Q P S L T p.880
. . . . . . g.176566
GTTCCAAGTGCCGGCCAGTTAAGGCAGAGGTCCGCCTTTACTCCAGCCACGGCCACTGGC c.2700
V P S A G Q L R Q R S A F T P A T A T G p.900
. . | 23. . . . g.180820
TCCTCCCCGTCTCCTGTGCTAGGCCAG | GGTGAAAAGGTGGAGGGGCTACAAGCTCAAGCC c.2760
S S P S P V L G Q | G E K V E G L Q A Q A p.920
. . . . . . g.180880
CTATATCCTTGGAGAGCCAAAAAAGACAACCACTTAAATTTTAACAAAAATGATGTCATC c.2820
L Y P W R A K K D N H L N F N K N D V I p.940
. . . . . . g.180940
ACCGTCCTGGAACAGCAAGACATGTGGTGGTTTGGAGAAGTTCAAGGTCAGAAGGGTTGG c.2880
T V L E Q Q D M W W F G E V Q G Q K G W p.960
. . . . . | 24 . g.181768
TTCCCCAAGTCTTACGTGAAACTCATTTCAGGGCCCATAAGGAAGTCTACAAG | CATGGAT c.2940
F P K S Y V K L I S G P I R K S T S | M D p.980
. . . . . . g.181828
TCTGGTTCTTCAGAGAGTCCTGCTAGTCTAAAGCGAGTAGCCTCTCCAGCAGCCAAGCCG c.3000
S G S S E S P A S L K R V A S P A A K P p.1000
. | 25 . . . . . g.186051
GTCGTTTCGGGAGAAG | AATTTATTGCCATGTACACTTACGAGAGTTCTGAGCAAGGAGAT c.3060
V V S G E E | F I A M Y T Y E S S E Q G D p.1020
. . . . . . g.186111
TTAACCTTTCAGCAAGGGGATGTGATTTTGGTTACCAAGAAAGATGGTGACTGGTGGACA c.3120
L T F Q Q G D V I L V T K K D G D W W T p.1040
. . . . . . g.186171
GGAACAGTGGGCGACAAGGCCGGAGTCTTCCCTTCTAACTATGTGAGGCTTAAAGATTCA c.3180
G T V G D K A G V F P S N Y V R L K D S p.1060
| 26 . . . . | 27 . g.192155
GAG | GGCTCTGGAACTGCTGGGAAAACAGGGAGTTTAGGAAAAAAACCTG | AAATTGCCCAG c.3240
E | G S G T A G K T G S L G K K P E | I A Q p.1080
. . . . . . g.192215
GTTATTGCCTCATACACCGCCACCGGCCCCGAGCAGCTCACTCTCGCCCCTGGTCAGCTG c.3300
V I A S Y T A T G P E Q L T L A P G Q L p.1100
. . . . . | 28 . g.196836
ATTTTGATCCGAAAAAAGAACCCAGGTGGATGGTGGGAAGGAGAGCTGCAA | GCACGTGGG c.3360
I L I R K K N P G G W W E G E L Q | A R G p.1120
. . . . . . g.196896
AAAAAGCGCCAGATAGGCTGGTTCCCAGCTAATTATGTAAAGCTTCTAAGCCCTGGGACG c.3420
K K R Q I G W F P A N Y V K L L S P G T p.1140
. . . . | 29 . g.198972
AGCAAAATCACTCCAACAGAGCCACCTAAGTCAACAGCATTAGCGGCAG | TGTGCCAGGTG c.3480
S K I T P T E P P K S T A L A A V | C Q V p.1160
. . . . . . g.199032
ATTGGGATGTACGACTACACCGCGCAGAATGACGATGAGCTGGCCTTCAACAAGGGCCAG c.3540
I G M Y D Y T A Q N D D E L A F N K G Q p.1180
. . . . . . g.199092
ATCATCAACGTCCTCAACAAGGAGGACCCTGACTGGTGGAAAGGAGAAGTCAATGGACAA c.3600
I I N V L N K E D P D W W K G E V N G Q p.1200
. . . . . . g.199152
GTGGGGCTCTTCCCATCCAATTATGTGAAGCTGACCACAGACATGGACCCAAGCCAGCAA c.3660
V G L F P S N Y V K L T T D M D P S Q Q p.1220
| 30 . . . . . . g.219315
T | GGTGTTCAGACTTACATCTCTTGGATATGTTGACCCCAACTGAAAGAAAGCGACAAGGA c.3720
W | C S D L H L L D M L T P T E R K R Q G p.1240
. . . . . . g.219375
TACATCCACGAGCTCATTGTCACCGAGGAGAACTATGTGAATGACCTGCAGCTGGTCACA c.3780
Y I H E L I V T E E N Y V N D L Q L V T p.1260
| 31 . . . . . . g.221263
GAG | ATTTTTCAAAAACCCCTGATGGAGTCTGAGCTGCTGACAGAAAAAGAGGTTGCTATG c.3840
E | I F Q K P L M E S E L L T E K E V A M p.1280
. . . . . | 32 . g.227681
ATTTTTGTGAACTGGAAGGAGCTGATTATGTGTAATATCAAACTACTAAA | AGCGCTGAGA c.3900
I F V N W K E L I M C N I K L L K | A L R p.1300
. . . . . . g.227741
GTCCGCAAGAAGATGTCCGGGGAGAAGATGCCTGTGAAGATGATTGGAGACATCCTGAGC c.3960
V R K K M S G E K M P V K M I G D I L S p.1320
. . . . . . g.227801
GCACAGCTGCCGCACATGCAGCCCTACATCCGCTTCTGCAGCCGCCAGCTCAACGGGGCT c.4020
A Q L P H M Q P Y I R F C S R Q L N G A p.1340
. . . . . | 33 . g.229759
GCCCTGATCCAGCAGAAGACGGATGAGGCCCCAGACTTCAAGGAGTTCGTCAAA | AGATTG c.4080
A L I Q Q K T D E A P D F K E F V K | R L p.1360
. . . . . . g.229819
GCAATGGATCCTCGGTGTAAAGGGATGCCACTCTCTAGTTTTATACTGAAGCCTATGCAA c.4140
A M D P R C K G M P L S S F I L K P M Q p.1380
. . . | 34 . . . g.237901
CGGGTAACAAGATACCCACTGATCATTAAAAAT | ATCCTGGAAAACACCCCTGAAAACCAC c.4200
R V T R Y P L I I K N | I L E N T P E N H p.1400
. . . . . . g.237961
CCGGACCACAGCCACTTGAAGCACGCCCTGGAGAAGGCGGAAGAGCTCTGTTCCCAGGTG c.4260
P D H S H L K H A L E K A E E L C S Q V p.1420
. . . . . . g.238021
AACGAAGGGGTGCGGGAGAAGGAGAACTCTGACCGGCTGGAGTGGATCCAGGCCCACGTG c.4320
N E G V R E K E N S D R L E W I Q A H V p.1440
. . | 35 . . . . g.244802
CAGTGTGAAGGCCTGTCTGAG | CAACTTGTGTTCAATTCAGTGACCAATTGCTTGGGGCCG c.4380
Q C E G L S E | Q L V F N S V T N C L G P p.1460
. . . . . . g.244862
CGCAAATTTCTGCACAGTGGGAAGCTCTACAAGGCCAAGAGCAACAAGGAGCTGTATGGC c.4440
R K F L H S G K L Y K A K S N K E L Y G p.1480
. . . . . . g.244922
TTCCTTTTCAACGACTTCCTCCTGCTGACTCAGATCACGAAGCCTTTGGGGTCTTCTGGC c.4500
F L F N D F L L L T Q I T K P L G S S G p.1500
. . . . . | 36 . g.246076
ACCGACAAAGTCTTCAGCCCCAAATCAAACCTGCAGTATAAAATGTATAAAACA | CCTATT c.4560
T D K V F S P K S N L Q Y K M Y K T | P I p.1520
. . . . . . g.246136
TTCCTAAATGAGGTTCTAGTAAAATTACCCACCGACCCTTCTGGAGACGAGCCCATCTTC c.4620
F L N E V L V K L P T D P S G D E P I F p.1540
. . . . . | 37 . g.247565
CACATCTCCCACATTGACCGCGTCTATACTCTCCGAGCAGAAAGCATAAATGAAAG | GACT c.4680
H I S H I D R V Y T L R A E S I N E R | T p.1560
. . . . . . g.247625
GCCTGGGTGCAGAAAATCAAAGCTGCTTCTGAACTCTACATAGAGACTGAGAAAAAGAAG c.4740
A W V Q K I K A A S E L Y I E T E K K K p.1580
. | 38 . . . . g.248000
CGCGAGAAAGCGTACCTGG | TCCGTTCCCAAAGGGCAACAGGCATTGGAAGGTTGATGGTG c.4800
R E K A Y L V | R S Q R A T G I G R L M V p.1600
. . . . | 39 . . g.248824
AACGTGGTTGAAGGCATCGAGTTGAAACCCTGTCGGTCACATG | GAAAGAGCAACCCGTAC c.4860
N V V E G I E L K P C R S H G | K S N P Y p.1620
. . . . . . g.248884
TGTGAGGTGACCATGGGTTCCCAGTGCCACATCACCAAGACGATCCAGGACACTCTGAAC c.4920
C E V T M G S Q C H I T K T I Q D T L N p.1640
. . . . . . g.248944
CCCAAGTGGAATTCCAACTGCCAGTTCTTCATCCGAGACCTGGAGCAGGAAGTCCTCTGC c.4980
P K W N S N C Q F F I R D L E Q E V L C p.1660
. . . | 40. . . g.250695
ATCACTGTGTTCGAGAGGGACCAGTTCTCACCAGATG | ATTTTTTGGGTCGGACGGAGATC c.5040
I T V F E R D Q F S P D D | F L G R T E I p.1680
. . . . . . g.250755
CGTGTGGCGGACATCAAGAAAGACCAGGGCTCCAAAGGTCCAGTTACGAAGTGTCTTCTG c.5100
R V A D I K K D Q G S K G P V T K C L L p.1700
. . . . . . g.250815
CTGCACGAAGTCCCCACGGGAGAGATTGTGGTCCGCTTGGACCTGCAGTTGTTTGATGAG c.5160
L H E V P T G E I V V R L D L Q L F D E p.1720
g.250821
CCGTAG c.5166
P X p.1721
. . . . . . g.250881
gcagcgggctcagggtgtgctcagcagggtcccagcccacggccacacatgctgtctgga c.*60
. . . . . . g.250941
aattgtattccttttctaagaaaccaccatttggtattcagtcacagggatatgggatgg c.*120
. . . . . . g.251001
caaagacaggcccctcaaagctcctaggaatcattctcgacaatcctccctgccccgaaa c.*180
. . . . . . g.251061
caatttcctgtttcatgaaacaaagctgtgttttcctttgtcctcactacaggtctcatt c.*240
. . . . . . g.251121
atggcttctagggtcgctgaaatcccatagccctcaacagggtgcagctgggagtctagc c.*300
. . . . . . g.251181
cccttcccgggcttgagggatgggtctggttactataaaatagatttataaatgcaatgt c.*360
. . . . . . g.251241
ctatatttttggagaactcatgtaaccctcctgtttcttacatccaccagtccccaagta c.*420
. . . . . . g.251301
gacttcttggcctacaatgcccagtccttggtgtgagtttagaaacaattatgacggtcc c.*480
. . . . . . g.251361
tgtcattgcttcagaatcccatctctcctgcagggaaatgctgcctagagctgatcactc c.*540
. . . . . . g.251421
ggtgagacggtctgatcaggccctggcttagctctttgaagagctggtctatggaagttt c.*600
. . . . . . g.251481
ccagcatgtgcaccgttatagccgttccttccccctctaggccttgtattaatatatgtc c.*660
. . . . . . g.251541
aatgaaaacacactggtgtattgttgcgtggattcagttctgattcccagcatgcttaga c.*720
. . . . . . g.251601
atatggtcacagaaagtcattatctagaaagtcacccctctgctggatcagatcactaca c.*780
. . . . . . g.251661
ggtcactggaaaggcaactttacaatgttgggtcactgggtctcggttggcagccatgtt c.*840
. . . . . . g.251721
ggaaaaatctcttttggctcggaggcctgtgatatttcatagcagcagtcgttgctggtg c.*900
. . . . . . g.251781
acctgttctgtgcttgaatgtgctgaatcctgattgttgtaggacatttcaacagctctt c.*960
. . . . g.251826
tttggtacgttccccaaaaagccatgtcctagatccccaaggcgt c.*1005
(downstream sequence)
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