(used for variant description)
(last modified January 21, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_000887.3 in the ITGAX gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering ITGAX transcript NM_000887.3.
(upstream sequence)
g.5007
agtacct c.-61
. . . . . . g.5067
tggtccagctcttcctgcaacggcccaggagctcagagctccacatctgaccttctagtc c.-1
. . . | 02. . . g.5728
ATGACCAGGACCAGGGCAGCACTCCTCCTGTTCACAG | CCTTAGCAACTTCTCTAGGTTTC c.60
M T R T R A A L L L F T A | L A T S L G F p.20
. . . . . . g.5788
AACTTGGACACAGAGGAGCTGACAGCCTTCCGTGTGGACAGCGCTGGGTTTGGAGACAGC c.120
N L D T E E L T A F R V D S A G F G D S p.40
. . | 03 . . . . g.6474
GTGGTCCAGTATGCCAACTCCTG | GGTGGTGGTTGGAGCCCCCCAAAAGATAACAGCTGCC c.180
V V Q Y A N S W | V V V G A P Q K I T A A p.60
. . . . . . g.6534
AACCAAACGGGTGGCCTCTACCAGTGTGGCTACAGCACTGGTGCCTGTGAGCCCATCGGC c.240
N Q T G G L Y Q C G Y S T G A C E P I G p.80
| 04. . . . . . g.6896
CTGCAGG | TGCCCCCGGAGGCCGTGAACATGTCCCTGGGCCTGTCCCTGGCGTCTACCACC c.300
L Q V | P P E A V N M S L G L S L A S T T p.100
. | 05 . . . . g.7107
AGCCCTTCCCAGCTGCTG | GCCTGCGGCCCCACCGTGCACCACGAGTGCGGGAGGAACATG c.360
S P S Q L L | A C G P T V H H E C G R N M p.120
. . . . . . g.7167
TACCTCACCGGACTCTGCTTCCTCCTGGGCCCCACCCAGCTCACCCAGAGGCTCCCGGTG c.420
Y L T G L C F L L G P T Q L T Q R L P V p.140
. | 06 . . . . . g.9562
TCCAGGCAGG | AGTGCCCAAGACAGGAGCAGGACATTGTGTTCCTGATCGATGGCTCAGGC c.480
S R Q E | C P R Q E Q D I V F L I D G S G p.160
. . . . . . g.9622
AGCATCTCCTCCCGCAACTTTGCCACGATGATGAACTTCGTGAGAGCTGTGATAAGCCAG c.540
S I S S R N F A T M M N F V R A V I S Q p.180
. . | 07 . . . . g.9771
TTCCAGAGACCCAGCACCCAG | TTTTCCCTGATGCAGTTCTCCAACAAATTCCAAACACAC c.600
F Q R P S T Q | F S L M Q F S N K F Q T H p.200
. . . . . . g.9831
TTCACTTTCGAGGAATTCAGGCGCAGCTCAAACCCCCTCAGCCTGTTGGCTTCTGTTCAC c.660
F T F E E F R R S S N P L S L L A S V H p.220
. . . . | 08. . g.10135
CAGCTGCAAGGGTTTACATACACGGCCACCGCCATCCAAAATGTCGT | GCACCGATTGTTC c.720
Q L Q G F T Y T A T A I Q N V V | H R L F p.240
. . . . . . g.10195
CATGCCTCATATGGGGCCCGTAGGGATGCCGCCAAAATTCTCATTGTCATCACTGATGGG c.780
H A S Y G A R R D A A K I L I V I T D G p.260
. . . . . . g.10255
AAGAAAGAAGGCGACAGCCTGGATTATAAGGATGTCATCCCCATGGCTGATGCAGCAGGC c.840
K K E G D S L D Y K D V I P M A D A A G p.280
. . | 09 . . . . g.10914
ATCATCCGCTATGCAATTGGG | GTTGGATTAGCTTTTCAAAACAGAAATTCTTGGAAAGAA c.900
I I R Y A I G | V G L A F Q N R N S W K E p.300
. . . . . . g.10974
TTAAATGACATTGCATCGAAGCCCTCCCAGGAACACATATTTAAAGTGGAGGACTTTGAT c.960
L N D I A S K P S Q E H I F K V E D F D p.320
. . . . . | 10 . g.11656
GCTCTGAAAGATATTCAAAACCAACTGAAGGAGAAGATCTTTGCCATTGAGG | GTACGGAG c.1020
A L K D I Q N Q L K E K I F A I E G | T E p.340
. . . . . . g.11716
ACCACAAGCAGTAGCTCCTTCGAATTGGAGATGGCACAGGAGGGCTTCAGCGCTGTGTTC c.1080
T T S S S S F E L E M A Q E G F S A V F p.360
| 11 . . . . . . g.11941
ACACCT | GATGGCCCCGTTCTGGGGGCTGTGGGGAGCTTCACCTGGTCTGGAGGTGCCTTC c.1140
T P | D G P V L G A V G S F T W S G G A F p.380
. . . . . . g.12001
CTGTACCCCCCAAATATGAGCCCTACCTTCATCAACATGTCTCAGGAGAATGTGGACATG c.1200
L Y P P N M S P T F I N M S Q E N V D M p.400
. | 12 . . . . . g.12467
AGGGACTCTTACCTGG | GTTACTCCACCGAGCTGGCCCTCTGGAAAGGGGTGCAGAGCCTG c.1260
R D S Y L G | Y S T E L A L W K G V Q S L p.420
. . . . . . g.12527
GTCCTGGGGGCCCCCCGCTACCAGCACACCGGGAAGGCTGTCATCTTCACCCAGGTGTCC c.1320
V L G A P R Y Q H T G K A V I F T Q V S p.440
. . . | 13 . . g.12768
AGGCAATGGAGGATGAAGGCCGAAGTCACGGGGACTCAG | ATCGGCTCCTACTTCGGGGCC c.1380
R Q W R M K A E V T G T Q | I G S Y F G A p.460
. . . . . . g.12828
TCCCTCTGCTCCGTGGACGTAGACAGCGACGGCAGCACCGACCTGGTCCTCATCGGGGCC c.1440
S L C S V D V D S D G S T D L V L I G A p.480
. . . . . . g.12888
CCCCATTACTACGAGCAGACCCGAGGGGGCCAGGTGTCTGTGTGTCCCTTGCCCAGGGGG c.1500
P H Y Y E Q T R G G Q V S V C P L P R G p.500
| 14 . . . . . . g.13037
| TGGAGAAGGTGGTGGTGTGATGCTGTTCTCTACGGGGAGCAGGGCCACCCCTGGGGTCGC c.1560
| W R R W W C D A V L Y G E Q G H P W G R p.520
. . . . . . g.13097
TTTGGGGCGGCTCTGACAGTGCTGGGGGATGTGAATGGGGACAAGCTGACAGACGTGGTC c.1620
F G A A L T V L G D V N G D K L T D V V p.540
. . . . . . g.13157
ATCGGGGCCCCAGGAGAGGAGGAGAACCGGGGTGCTGTCTACCTGTTTCACGGAGTCTTG c.1680
I G A P G E E E N R G A V Y L F H G V L p.560
. . . | 15 . . . g.20926
GGACCCAGCATCAGCCCCTCCCACAGCCAG | CGGATCGCGGGCTCCCAGCTCTCCTCCAGG c.1740
G P S I S P S H S Q | R I A G S Q L S S R p.580
. . . . . . g.20986
CTGCAGTATTTTGGGCAGGCACTGAGCGGGGGTCAAGACCTCACCCAGGATGGACTGGTG c.1800
L Q Y F G Q A L S G G Q D L T Q D G L V p.600
. . . . | 16 . . g.21165
GACCTGGCTGTGGGGGCCCGGGGCCAGGTGCTCCTGCTCAG | GACCAGACCTGTGCTCTGG c.1860
D L A V G A R G Q V L L L R | T R P V L W p.620
. . . . . . g.21225
GTGGGGGTGAGCATGCAGTTCATACCTGCCGAGATCCCCAGGTCTGCGTTTGAGTGTCGG c.1920
V G V S M Q F I P A E I P R S A F E C R p.640
. . . . . . g.21285
GAGCAGGTGGTCTCTGAGCAGACCCTGGTACAGTCCAACATCTGCCTTTACATTGACAAA c.1980
E Q V V S E Q T L V Q S N I C L Y I D K p.660
. . | 17 . . . . g.21477
CGTTCTAAGAACCTGCTTGGGAGCC | GTGACCTCCAAAGCTCTGTGACCTTGGACCTGGCC c.2040
R S K N L L G S R | D L Q S S V T L D L A p.680
. . . . . . g.21537
CTCGACCCTGGCCGCCTGAGTCCCCGTGCCACCTTCCAGGAAACAAAGAACCGGAGTCTG c.2100
L D P G R L S P R A T F Q E T K N R S L p.700
. . . . . . g.21597
AGCCGAGTCCGAGTCCTCGGGCTGAAGGCACACTGTGAAAACTTCAACCTGCTGCTCCCG c.2160
S R V R V L G L K A H C E N F N L L L P p.720
| 18 . . . . . . g.22250
| AGCTGCGTGGAGGACTCTGTGACCCCCATTACCTTGCGTCTGAACTTCACGCTGGTGGGC c.2220
| S C V E D S V T P I T L R L N F T L V G p.740
. . . . . . g.22310
AAGCCCCTCCTTGCCTTCAGAAACCTGCGGCCTATGCTGGCCGCCGATGCTCAGAGATAC c.2280
K P L L A F R N L R P M L A A D A Q R Y p.760
. | 19 . . . . . g.22457
TTCACGGCCTCC | CTACCCTTTGAGAAGAACTGTGGAGCCGACCATATCTGCCAGGACAAT c.2340
F T A S | L P F E K N C G A D H I C Q D N p.780
. . | 20 . . . . g.23095
CTCGGCATCTCCTTCAGCTTCCCAGG | CTTGAAGTCCCTGCTGGTGGGGAGTAACCTGGAG c.2400
L G I S F S F P G | L K S L L V G S N L E p.800
. . . . . . g.23155
CTGAACGCAGAAGTGATGGTGTGGAATGACGGGGAAGACTCCTACGGAACCACCATCACC c.2460
L N A E V M V W N D G E D S Y G T T I T p.820
. . . . | 21 . g.26623
TTCTCCCACCCCGCAGGACTGTCCTACCGCTACGTGGCAGAGGGCCAG | AAACAAGGGCAG c.2520
F S H P A G L S Y R Y V A E G Q | K Q G Q p.840
. . . . . . g.26683
CTGCGTTCCCTGCACCTGACATGTGACAGCGCCCCAGTTGGGAGCCAGGGCACCTGGAGC c.2580
L R S L H L T C D S A P V G S Q G T W S p.860
. . . . | 22 . . g.26827
ACCAGCTGCAGAATCAACCACCTCATCTTCCGTGGCGGCGCCCAG | ATCACCTTCTTGGCT c.2640
T S C R I N H L I F R G G A Q | I T F L A p.880
. . . . . . g.26887
ACCTTTGACGTCTCCCCCAAGGCTGTCCTGGGAGACCGGCTGCTTCTGACAGCCAATGTG c.2700
T F D V S P K A V L G D R L L L T A N V p.900
| 23 . . . . . . g.27049
AGCAG | TGAGAACAACACTCCCAGGACCAGCAAGACCACCTTCCAGCTGGAGCTCCCGGTG c.2760
S S | E N N T P R T S K T T F Q L E L P V p.920
. . | 24 . . . g.29411
AAGTATGCTGTCTACACTGTGGTTAGCAG | CCACGAACAATTCACCAAATACCTCAACTTC c.2820
K Y A V Y T V V S S | H E Q F T K Y L N F p.940
. . . . | 25 . g.29581
TCAGAGTCTGAGGAGAAGGAAAGCCATGTGGCCATGCACAGATACCAG | GTCAATAACCTG c.2880
S E S E E K E S H V A M H R Y Q | V N N L p.960
. . . . . . g.29641
GGACAGAGGGACCTGCCTGTCAGCATCAACTTCTGGGTGCCTGTGGAGCTGAACCAGGAG c.2940
G Q R D L P V S I N F W V P V E L N Q E p.980
. . . | 26 . . . g.29818
GCTGTGTGGATGGATGTGGAGGTCTCCCACCCCCAG | AACCCATCCCTTCGGTGCTCCTCA c.3000
A V W M D V E V S H P Q | N P S L R C S S p.1000
. . . . . . g.29878
GAGAAAATCGCACCCCCAGCATCTGACTTCCTGGCGCACATTCAGAAGAATCCCGTGCTG c.3060
E K I A P P A S D F L A H I Q K N P V L p.1020
| 27 . . . . . . g.30138
| GACTGCTCCATTGCTGGCTGCCTGCGGTTCCGCTGTGACGTCCCCTCCTTCAGCGTCCAG c.3120
| D C S I A G C L R F R C D V P S F S V Q p.1040
. . . . . | 28 . g.30341
GAGGAGCTGGATTTCACCCTGAAGGGCAACCTCAGCTTTGGCTGGGTCCGCCAG | ATATTG c.3180
E E L D F T L K G N L S F G W V R Q | I L p.1060
. . . . . . g.30401
CAGAAGAAGGTGTCGGTCGTGAGTGTGGCTGAAATTACGTTCGACACATCCGTGTACTCC c.3240
Q K K V S V V S V A E I T F D T S V Y S p.1080
. . . | 29 . . . g.30733
CAGCTTCCAGGACAGGAGGCATTTATGAGAGCTCAG | ACGACAACGGTGCTGGAGAAGTAC c.3300
Q L P G Q E A F M R A Q | T T T V L E K Y p.1100
. . . . . . g.30793
AAGGTCCACAACCCCACCCCCCTCATCGTAGGCAGCTCCATTGGGGGTCTGTTGCTGCTG c.3360
K V H N P T P L I V G S S I G G L L L L p.1120
. . | 30. . . . g.31648
GCACTCATCACAGCGGTACTGTACAAA | GTTGGCTTCTTCAAGCGTCAGTACAAGGAAATG c.3420
A L I T A V L Y K | V G F F K R Q Y K E M p.1140
. . . . . . g.31708
ATGGAGGAGGCAAATGGACAAATTGCCCCAGAAAACGGGACACAGACCCCCAGCCCGCCC c.3480
M E E A N G Q I A P E N G T Q T P S P P p.1160
. g.31720
AGTGAGAAATGA c.3492
S E K X p.1163
. . . . . . g.31780
tcccctctttgccttggacttcttctcccccgcgagttttccccacttacttaccctcac c.*60
. . . . . . g.31840
ctgtcaggcctgacggggaggaaccactgcaccaccgagagaggctgggatgggcctgct c.*120
. . . . . . g.31900
tcctgtctttgggagaaaacgtcttgcttgggaaggggcctttgtcttgtcaaggttcca c.*180
. . . . . . g.31960
actggaaacccttaggacagggtccctgctgtgttccccaaaggacttgacttgcaattt c.*240
. . . . . . g.32020
ctacctagaaatacatggacaatacccccaggcctcagtctcccttctcccatgaggcac c.*300
. . . . . . g.32080
gaatgatctttctttcctttctttttttttttttttcttttcttttttttttttttgaga c.*360
. . . . . . g.32140
cggagtctcgctctgtcacccaggctggagtgcaatggcgtgatctcggctcactgcaac c.*420
. . . . . . g.32200
ctccgcctcccgggttcaagtaattctgctgtctcagcctcctgagtagctgggactaca c.*480
. . . . . . g.32260
ggcacacgccacctcgcccggcccgatctttctaaaatacagttctgaatatgctgctca c.*540
. . . . . . g.32320
tccccacctgtcttcaacagctccccattaccctcaggacaatgtctgaactctccagct c.*600
. . . . . . g.32380
tcgcgtgagaagtccccttccatcccagagggtgggcttcagggcgcacagcatgagagg c.*660
. . . . . . g.32440
ctctgtgcccccatcaccctcgtttccagtgaattagtgtcatgtcagcatcagctcagg c.*720
. . . . . . g.32500
gcttcatcgtggggctctcagttccgatttcccaggctgaattgggagtgagatgcctgc c.*780
. . . . . . g.32560
atgctgggttctgcacagctggcctcccgcgttgggcaacattgctggctggaagggagg c.*840
. . . . . . g.32620
agcgccctctagggagggacatggccccggtgcggctgcagctcacccagccccaggggc c.*900
. . . . . . g.32680
agaagagacccaaccacttctattttttgaggctatgaatatagtacctgaaaaaatgcc c.*960
. . . . . . g.32740
aagacatgattatttttttaaaaagcgtactttaaatgtttgtgttaataaattaaaaca c.*1020
. . . . . . g.32800
tgcacaaaaagatgcatctaccgctcttgggaaatatgtcaaaggtctaaaaataaaaaa c.*1080
. g.32810
gccttctgtg c.*1090
(downstream sequence)
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