(used for variant description)
(last modified December 6, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001134382.2 in the IQSEC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering IQSEC1 transcript NM_001134382.2.
(upstream sequence)
. . . . g.5043
attcccctccacttcttgcctgagccgcctgctcctcttggaa c.-61
. . . . . . g.5103
acacgttgagcctccccgctggagagggagccagaacagggaagaacggattcacacagg c.-1
. . | 02 . . . . g.136289
ATGGCTTGCAGAAGACGCTATTT | CGTCGAGGGCGAGGCCCCCAGCAGTGAGACTGGCACA c.60
M A C R R R Y F | V E G E A P S S E T G T p.20
. . . . . . g.136349
TCCCTGGACAGCCCCTCAGCCTACCCCCAGGGCCCCTTGGTGCCCGGTTCCAGCCTGAGC c.120
S L D S P S A Y P Q G P L V P G S S L S p.40
. . . . . . g.136409
CCGGATCACTACGAGCACACGTCAGTGGGAGCCTATGGGCTGTACTCGGGGCCGCCGGGG c.180
P D H Y E H T S V G A Y G L Y S G P P G p.60
. . . . . . g.136469
CAACAGCAGCGCACGCGGAGGCCCAAGCTGCAGCACTCGACCTCCATCCTGCGCAAGCAG c.240
Q Q Q R T R R P K L Q H S T S I L R K Q p.80
. . . . . . g.136529
GCTGAGGAGGAGGCCATCAAGCGCTCACGCTCACTCTCCGAGAGCTATGAGCTCTCCTCG c.300
A E E E A I K R S R S L S E S Y E L S S p.100
. | 03 . . . . g.141462
GACCTGCAGGACAAGCAG | GTGGAGATGCTAGAACGAAAGTATGGGGGGCGCCTGGTAACC c.360
D L Q D K Q | V E M L E R K Y G G R L V T p.120
. . . . . . g.141522
CGCCATGCGGCCCGCACCATCCAGACGGCGTTTCGCCAGTACCAGATGAACAAGAACTTC c.420
R H A A R T I Q T A F R Q Y Q M N K N F p.140
. . . . . . g.141582
GAGCGCTTGCGCAGCTCCATGTCAGAGAACCGCATGTCACGCCGGATTGTGCTGTCCAAC c.480
E R L R S S M S E N R M S R R I V L S N p.160
. . . . . . g.141642
ATGAGGATGCAGTTCTCCTTTGAGGGGCCTGAGAAAGTGCACAGCTCCTACTTCGAGGGG c.540
M R M Q F S F E G P E K V H S S Y F E G p.180
. . . . . . g.141702
AAGCAGGTCTCAGTGACTAACGACGGCTCCCAGCTGGGAGCCCTGGTGTCCCCTGAGTGT c.600
K Q V S V T N D G S Q L G A L V S P E C p.200
. . . . . . g.141762
GGTGACCTCAGCGAGCCCACCACCCTCAAGTCTCCGGCCCCCTCCAGTGACTTTGCGGAC c.660
G D L S E P T T L K S P A P S S D F A D p.220
. . . . . . g.141822
GCCATCACCGAGCTGGAGGACGCCTTCTCTAGGCAAGTGAAATCACTGGCCGAGTCCATC c.720
A I T E L E D A F S R Q V K S L A E S I p.240
. . . . . . g.141882
GACGATGCCCTCAACTGCCGCAGCCTGCACACTGAGGAGGCACCGGCCCTGGATGCGGCG c.780
D D A L N C R S L H T E E A P A L D A A p.260
. . . . . . g.141942
CGGGCCCGGGACACCGAACCCCAGACAGCCCTGCACGGCATGGACCACCGCAAACTGGAC c.840
R A R D T E P Q T A L H G M D H R K L D p.280
. . . . . . g.142002
GAGATGACGGCCTCGTACAGTGATGTCACCCTGTACATCGATGAGGAGGAGCTGTCGCCC c.900
E M T A S Y S D V T L Y I D E E E L S P p.300
. . . . . . g.142062
CCTCTGCCCCTCTCGCAGGCAGGGGACCGGCCGTCCAGCACCGAGTCGGACCTGCGGCTA c.960
P L P L S Q A G D R P S S T E S D L R L p.320
. . . . . . g.142122
CGGGCTGGGGGCGCAGCCCCAGACTACTGGGCCCTGGCCCACAAAGAGGACAAGGCTGAC c.1020
R A G G A A P D Y W A L A H K E D K A D p.340
. . . . . . g.142182
ACGGACACGAGCTGCCGGAGCACGCCGTCGCTGGAGCGGCAGGAGCAGCGGCTGCGGGTG c.1080
T D T S C R S T P S L E R Q E Q R L R V p.360
. . . . . . g.142242
GAGCATCTGCCGCTGCTCACCATCGAGCCACCCAGCGACAGCTCTGTGGACCTTAGTGAC c.1140
E H L P L L T I E P P S D S S V D L S D p.380
. . . . . . g.142302
CGCTCGGAGCGGGGGTCACTCAAGAGGCAGAGTGCTTACGAGCGCAGCCTTGGCGGGCAG c.1200
R S E R G S L K R Q S A Y E R S L G G Q p.400
. . . . . . g.142362
CAGGGCAGTCCCAAGCATGGTCCCCACAGCGGCGCCCCCAAGAGCCTCCCCCGGGAGGAG c.1260
Q G S P K H G P H S G A P K S L P R E E p.420
. . . . . . g.142422
CCTGAGTTGCGGCCCCGGCCCCCCAGGCCCCTGGACAGCCACTTGGCCATCAATGGCTCA c.1320
P E L R P R P P R P L D S H L A I N G S p.440
. . . . . . g.142482
GCCAACCGGCAGAGCAAGTCTGAGTCGGACTACTCAGACGGTGACAATGACAGCATCAAC c.1380
A N R Q S K S E S D Y S D G D N D S I N p.460
. . . . . . g.142542
AGCACGTCCAACTCCAACGATACCATCAACTGCAGCTCCGAGTCATCGTCCCGTGACAGC c.1440
S T S N S N D T I N C S S E S S S R D S p.480
. . . . . . g.142602
CTGCGGGAGCAGACGCTCAGCAAGCAGACCTACCACAAGGAGGCCCGCAACAGCTGGGAC c.1500
L R E Q T L S K Q T Y H K E A R N S W D p.500
. . . . . . g.142662
TCGCCTGCCTTTAGCAACGATGTCATCCGCAAGAGGCACTACCGCATCGGCCTGAACCTC c.1560
S P A F S N D V I R K R H Y R I G L N L p.520
| 04 . . . . . g.153427
TTCAACAA | GAAGCCTGAGAAGGGAGTCCAGTACCTCATCGAGCGTGGCTTTGTGCCCGAC c.1620
F N K | K P E K G V Q Y L I E R G F V P D p.540
. . . . . . g.153487
ACGCCCGTCGGGGTGGCCCACTTCCTGCTGCAGCGCAAGGGCCTCAGCCGGCAGATGATC c.1680
T P V G V A H F L L Q R K G L S R Q M I p.560
. . . . . | 05 . g.155885
GGCGAGTTCCTGGGCAACCGGCAGAAGCAGTTCAACCGTGACGTGCTCGA | CTGCGTCGTG c.1740
G E F L G N R Q K Q F N R D V L D | C V V p.580
. . . . . . g.155945
GACGAGATGGACTTCTCTACCATGGAGCTGGATGAGGCCCTCAGGAAATTCCAGGCGCAC c.1800
D E M D F S T M E L D E A L R K F Q A H p.600
. . . . . | 06 . g.157528
ATCCGTGTCCAAGGGGAGGCTCAGAAAGTGGAGCGGCTCATAGAGGCGTTCAG | CCAGCGC c.1860
I R V Q G E A Q K V E R L I E A F S | Q R p.620
. . . . . . g.157588
TACTGCATCTGCAACCCTGGGGTGGTGCGGCAATTCCGGAACCCAGACACCATTTTCATC c.1920
Y C I C N P G V V R Q F R N P D T I F I p.640
. . . . . . g.157648
CTGGCCTTCGCCATCATCCTGCTGAACACCGACATGTACAGCCCCAATGTCAAGCCCGAG c.1980
L A F A I I L L N T D M Y S P N V K P E p.660
. . . . | 07 . . g.162404
CGGAAAATGAAGCTAGAGGACTTCATCAAGAACCTCCGAG | GTGTGGACGATGGTGAGGAC c.2040
R K M K L E D F I K N L R G | V D D G E D p.680
. . . . . . g.162464
ATTCCCCGTGAGATGCTGATGGGGATCTATGAACGGATCCGTAAGCGAGAGCTAAAGACC c.2100
I P R E M L M G I Y E R I R K R E L K T p.700
. . . . . . g.162524
AATGAGGACCATGTGTCCCAGGTGCAGAAGGTGGAGAAGCTCATTGTGGGGAAAAAGCCG c.2160
N E D H V S Q V Q K V E K L I V G K K P p.720
| 08 . . . | 09 . . . g.164594
| ATCGGATCCCTGCATCCCGGGCTCGGCTGT | GTGCTCTCTCTGCCCCACCGTCGGTTGGTC c.2220
| I G S L H P G L G C | V L S L P H R R L V p.740
. . . . . . g.164654
TGCTACTGCCGGCTCTTTGAGGTTCCAGACCCAAACAAGCCCCAGAAACTCGGACTACAC c.2280
C Y C R L F E V P D P N K P Q K L G L H p.760
. . . | 10 . . . g.166413
CAGCGAGAAATCTTCCTGTTCAACGACCTCCTGGTG | GTCACCAAGATCTTCCAGAAGAAG c.2340
Q R E I F L F N D L L V | V T K I F Q K K p.780
. . . . . . g.166473
AAGAACTCGGTGACGTACAGCTTCCGACAGTCCTTCTCCTTGTACGGCATGCAGGTCCTG c.2400
K N S V T Y S F R Q S F S L Y G M Q V L p.800
. | 11 . . . . . g.168727
CTCTTCGAGAACCAGT | ACTACCCCAATGGCATCCGGCTCACCTCGTCTGTCCCCGGAGCA c.2460
L F E N Q Y | Y P N G I R L T S S V P G A p.820
. . . . . . g.168787
GATATCAAAGTGTTAATAAACTTCAACGCCCCCAACCCTCAAGACCGGAAGAAATTCACC c.2520
D I K V L I N F N A P N P Q D R K K F T p.840
. . . . . | 12 g.169594
GATGACCTGCGGGAGTCCATTGCGGAAGTCCAAGAGATGGAGAAGCACAGGATAGAGT | CG c.2580
D D L R E S I A E V Q E M E K H R I E S | p.860
. . . . . . g.169654
GAGCTCGAGAAGCAGAAAGGCGTCGTGCGGCCCAGCATGTCCCAGTGCTCTAGCCTCAAA c.2640
E L E K Q K G V V R P S M S Q C S S L K p.880
. . . . . . g.169714
AAGGAGTCGGGCAACGGAACACTGAGCCGGGCCTGCCTGGACGACAGCTATGCCAGCGGT c.2700
K E S G N G T L S R A C L D D S Y A S G p.900
. . . . . | 13 . g.175300
GAGGGCCTCAAGCGCAGCGCCCTCAGCAGCTCCCTGCGGGACCTCTCGGAAGCCG | GGAAG c.2760
E G L K R S A L S S S L R D L S E A G | K p.920
. . . . | 14 . . g.176610
CGAGGGCGTCGCAGCAGTGCGGGATCGCTAGAGAGCAATGTGGAA | GGGTCCATCATTAGC c.2820
R G R R S S A G S L E S N V E | G S I I S p.940
. . . . . . g.176670
AGTCCTCACATGCGCCGGAGAGCTACATCAACACGAGAGTGTCCATCTCGCCCACACCAG c.2880
S P H M R R R A T S T R E C P S R P H Q p.960
. . . . . . g.176730
ACTATGCCCAACTCATCTTCCCTCCTGGGCTCCTTATTCGGGAGCAAGAGAGGGAAGCCC c.2940
T M P N S S S L L G S L F G S K R G K P p.980
. . . . . . g.176790
CCTCCCCAGGCCCACCTGCCCTCAGCCCCAGCCCTGGCCACCCCCCCACCCACCGGTGGT c.3000
P P Q A H L P S A P A L A T P P P T G G p.1000
. . . . . . g.176850
CCTGCCTCACTTGCAGCACTCTGTGGCTGGCCACCACCTGGGGCCCCCAGAGGGGCTGCC c.3060
P A S L A A L C G W P P P G A P R G A A p.1020
. . . . . . g.176910
GCAGGCCGCCATGCACGGGCATCACACCCAGTACTGCCACATGCAGAACCCTCCCCCGTA c.3120
A G R H A R A S H P V L P H A E P S P V p.1040
. . . . . . g.176970
CCACCATCACCACCACCACCACCCACCCCAGCACATCCAGCACGCACACCAGTACCACCA c.3180
P P S P P P P P T P A H P A R T P V P P p.1060
. . . . . . g.177030
CGGCCCCCATGGGGGCCACCCAGCCTACGGGGCCCATGCCCACGGCCACCCGCCGCTGCC c.3240
R P P W G P P S L R G P C P R P P A A A p.1080
. . . . . . g.177090
CTCGGCCCACGTGGGGCACACAGTGCACCACCATGGGCAGCCCCCTGCCCCGCCGCCCCC c.3300
L G P R G A H S A P P W A A P C P A A P p.1100
. . . . . . g.177150
CACCAGCAGCAAGGCCAAACCCAGCGGCATCAGCACAATTGTGTAGACAGCCTGGGTAGG c.3360
H Q Q Q G Q T Q R H Q H N C V D S L G R p.1120
. . . . . . g.177210
GGTCCCAGGCTCCCTGAAACACCTGCACACCACACAGGGCACGCCCGGGGGTCGCCAGCC c.3420
G P R L P E T P A H H T G H A R G S P A p.1140
. . . . . . g.177270
GCACACCAAACCCGGGGCACTTCTGTTGCCATCTCTCCCCTCTGCCCCTCACGGCCCAAC c.3480
A H Q T R G T S V A I S P L C P S R P N p.1160
. . . . . . g.177330
CGGAGCCCCAGGAGCCCACAGGGCTGGTGTTGTGTGGAACAAAGGCCCAGATTTCATTTC c.3540
R S P R S P Q G W C C V E Q R P R F H F p.1180
. . . g.177366
TTGTTGGCACCCTGGGCTCTGCTCACCTCAGTCTGA c.3576
L L A P W A L L T S V X p.1191
. . . . . . g.177426
gggatgggtgggcctcagacaccatcagccttgaaacggtgagccagccaagtagtgttg c.*60
. . . . . . g.177486
aactgcctcccccactccagctctcagctccctgtgccctaatgtacatgcatatgaaaa c.*120
. . . . . . g.177546
cccaacctagaaaacgaagaaatgagatacaaaaacagacaaaacaaaccccaaaacttg c.*180
. . . . . . g.177606
ctgcattattgctcttttattgacaatgggcaaaaaaataagtagacctgatatggttga c.*240
. . . . . . g.177666
tgaaaatacgtaagtaaactttatataaatatataaatatataaatatatatatatatat c.*300
. . . . . . g.177726
actgtataggtagtacttgtgtgtgaaaggcaggcgtttcagtccacattagcaataccc c.*360
. . . . . . g.177786
accttacaaggagctccacttacctaataggaagacagtaccttagctgggtgtgtgaga c.*420
. . . . . . g.177846
caatagaccaaaccctaaatgctaggaacaaattcagatacttcatattttcatacaaag c.*480
. . . . . . g.177906
aagtccctctaggactggctaaaatctttacacaatcattactaactgtgccaagtaaca c.*540
. . . . . . g.177966
tagcatctaactgtttaaaaagtccagtattgctttgtataaatccttattttattaaca c.*600
. . . . . . g.178026
gaatactatcataaatagtattataatgctgttatttcaggtaagcaaatagctaaactg c.*660
. . . . . . g.178086
cagtacactctacagtagcaactcaggacagctggttacaagctggttgtcttaggacat c.*720
. . . . . . g.178146
tggttacacggattcttagacactttaatggctgcgataactgtgactctccatgatcca c.*780
. . . . . . g.178206
tgtttcttttatgcgcatatgatttgacgcacactcattcagagtcctccgagaggggca c.*840
. . . . . . g.178266
cccatacacggcagaagtgttcatctccaacatgaaagtgaccagctctcatcctcgtct c.*900
. . . . . . g.178326
ccccaacaccataacgtcctcatcccgcctccaacccacaccaggccgaagccctcagag c.*960
. . . . . . g.178386
agtgttttcatcaggaaccactctcgaacctgaaggttgactttagcgtttagcaaccca c.*1020
. . . . . . g.178446
gggcggtgtgtgtgtttcccgttttgttttctgagtggtagcagtgatcaccgtaattcc c.*1080
. . . . . . g.178506
atgtagccatgtgctagcagaacccctgtgtcctcaccgtggcccgtgtgaccccagccg c.*1140
. . . . . . g.178566
acgagtgcccggcggagcccccgctgccttcccatggtccagtgagctgccagggcatca c.*1200
. . . . . . g.178626
catgactctcagctgtgctcttgtcgcttctgtgttgtggtgacaccatgcgctccccag c.*1260
. . . . . . g.178686
ggccagacctgcacgcggcaggtctgtgcccgagtcacccacgggccatactttgtagtt c.*1320
. . . . . . g.178746
tcagcctttcgagccactgcagccgtcagtgctgtgctcctaagccatgggacccgagga c.*1380
. . . . . . g.178806
ctgccccccggcgcctgcccaggcggaggccctttcagaaagggcgaagctcacgcctga c.*1440
. . . . . . g.178866
ctctgcgggccgcggggccgcgttcccagtggacagcgtggtgagccgtggccggacggc c.*1500
. . . . . . g.178926
aggaggagaggggagccccctctggctgtgtgtcaccttggctggctggctggccagggt c.*1560
. . . . . . g.178986
tttgccgatttccctcctcacatccctcccaccctcggtcatatcattgagatcaccgta c.*1620
. . . . . . g.179046
ccagcaaatctgcaaaccaagcactttgttaatctccagagagagcaaatacagcaatct c.*1680
. . . . . . g.179106
agagtttagcctttttaaaaatgtgactttaacccgcccacctgtgtcctcccattggcg c.*1740
. . . . . . g.179166
tggcatttctttggtgtctgctcagaaagaaacagcatgggaccgtgtgattgggtccag c.*1800
. . . . . . g.179226
gctgggctgtcagggaagcgccctggtgtctccgactcatcaattctcgggtctttttta c.*1860
. . . . . . g.179286
aaagccaggctccccaaagcactctgtctcgcaattttgaggaggctgttccgacctgga c.*1920
. . . . . . g.179346
agcgttaaactgctgcatgtcatctggcgtcagctgtgaggctgcgctctgcgtgttgtg c.*1980
. . . . . . g.179406
cgtttgcaaaatgtattggcgtgactgtaaacacatcgttgaagtaaagcgattacatat c.*2040
. . . . . . g.179466
tgagtatgtcagcttttctcaccctcttctgtgctgggaggagagtctaactgtaacctt c.*2100
. . . . . . g.179526
taggttgttccagaaaagattcaggccgtttggcacagaattgctctttctgaagggtag c.*2160
. . . . . . g.179586
cagtaatgaataggaacagacagaaaaccccaggaggggctttcaggaaactctccctct c.*2220
. . . . . . g.179646
ccatcgccatcctgcaagctccacagcctcgggctgccagcctgtggcactgtcctcggt c.*2280
. . . . . . g.179706
gtgtcctggagctgtgctgggcagcagggcctcgcgtaaggaactgctggaacccactga c.*2340
. . . . . . g.179766
gcccttcccggggtttcccgccgcactcagtgtgttccttcaggctagtgaggtttcatt c.*2400
. . . . . . g.179826
ctgttttatttgcaagcttatcaaaagtttgtggaagatacattgttgggttccagaggc c.*2460
. . . . . . g.179886
tggagtcatgctgcccacatcttgtttgggaaagcaaaagctcccagtgagctggtgtcc c.*2520
. . . . . . g.179946
ccgtgtgtctttcatgggactgtcccctttagagatcccacctgtcagagccacagcttc c.*2580
. . . . . . g.180006
ggggtcctgtcatcacatcccctgggaggggaggcaggaggaggccgagggccccaggat c.*2640
. . . . . . g.180066
gtctgcctggtcccttctcactgtgaggacgcccttggcacacctttctcaagtcacaca c.*2700
. . . . . . g.180126
aattactgcagttacatacagaattgctgacaggagcaggagacgctgagggaaacagct c.*2760
. . . . . . g.180186
ggcaatgtgacaaaagtcttttctgggacaacaatcaaatcatgtatttgtattttttta c.*2820
. . . . . . g.180246
agtttaccaatgaattgtacaacaatgtaaaaataaagttcatcctaatatgctgtgcac c.*2880
. . . . . . g.180306
atcttgcttaaaaatgtcttcagcacccagtgcagtgatctttccctcacacactgcatg c.*2940
. . . . . . g.180366
cagcaggagcctcttgtttttcttaatgagctgaaaagacagcagatgttcacagctgat c.*3000
. . . . . . g.180426
gctgggtgttgactcagcgccacgggaagctctgtgcccgcaggtaagcacgcacagtct c.*3060
. . . . . . g.180486
tacagttctccttgtaaaatatcatcacccttcctgcctgagaaacgagtacatttgtat c.*3120
. . . . . . g.180546
tttatgtaacaacaatagtcaaggcagcattgcaacactgagcagggtgaggtgggggtg c.*3180
. . . . . . g.180606
ctgagcacaggacaagagggaggaggcctgccctccattcagatgcatctgcatcgccct c.*3240
. . . . . . g.180666
tctgtgtgcagtcacatcgagactgcacacagcatgcatctcctcttggaaaatatcttt c.*3300
. . . . . . g.180726
tgcctccgagttgttttaagcaattagaatcaggtcctgaatccccagactgttcagaga c.*3360
. . . . . . g.180786
cttcaagggacacctccctcacaagaagcctggcacccccactgtgtacctttgagagga c.*3420
. . . . . . g.180846
aaggagtgcgtttgttttcatctgcattctgtttgtcagtggcaacagactctatcaatg c.*3480
. . . . . . g.180906
taaaaccatggttgtgatcatgtggggaaatcaaataaatcctttgaaactctcggattc c.*3540
. . . . . . g.180966
tcactttttctgaaaagtccagaagttgccctgttggccagacccagatctccagctgat c.*3600
. . . . . . g.181026
gagtttccccattacttgttgtgactctgggcactcactttccttgaagacattggactg c.*3660
. . . . . g.181076
actgaggacactgatacaaaatttaaaataaagggacacatcacaaccaa c.*3710
(downstream sequence)
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