(used for variant description)
(last modified February 18, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001002295.1 in the GATA3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015859.1, covering GATA3 transcript NM_001002295.1.
(upstream sequence)
. g.5017
ggcgccgtcttgatact c.-541
. . . . . . g.5077
ttcagaaagaatgcattccctgtaaaaaaaaaaaaaaaatactgagagagggagagagag c.-481
. . . . . . g.5137
agagaagaagagagagagacggagggagagcgagacagagcgagcaacgcaatctgaccg c.-421
. . . . . . | 02 g.5592
agcaggtcgtacgccgccgcctcctcctcctctctgctcttcgctacccag | gtgacccga c.-361
. . . . . . g.5652
ggagggactccgcctccgagcggctgaggaccccggtgcagaggagcctggctcgcagaa c.-301
. . . . . . g.5712
ttgcagagtcgtcgcccctttttacaacctggtcccgttttattctgccgtacccagttt c.-241
. . . . . . g.5772
ttggatttttgtcttccccttcttctctttgctaaacgacccctccaagataatttttaa c.-181
. . . . . . g.5832
aaaaccttctcctttgctcacctttgcttcccagccttcccatccccccaccgaaagcaa c.-121
. . . . . . g.5892
atcattcaacgacccccgaccctccgacggcaggagccccccgacctcccaggcggaccg c.-61
. . . . . . g.5952
ccctccctccccgcgcgcgggttccgggcccggcgagagggcgcgagcacagccgaggcc c.-1
. . . . . . g.6012
ATGGAGGTGACGGCGGACCAGCCGCGCTGGGTGAGCCACCACCACCCCGCCGTGCTCAAC c.60
M E V T A D Q P R W V S H H H P A V L N p.20
. . . . . . g.6072
GGGCAGCACCCGGACACGCACCACCCGGGCCTCAGCCACTCCTACATGGACGCGGCGCAG c.120
G Q H P D T H H P G L S H S Y M D A A Q p.40
. . . . . . g.6132
TACCCGCTGCCGGAGGAGGTGGATGTGCTTTTTAACATCGACGGTCAAGGCAACCACGTC c.180
Y P L P E E V D V L F N I D G Q G N H V p.60
. . . . . . g.6192
CCGCCCTACTACGGAAACTCGGTCAGGGCCACGGTGCAGAGGTACCCTCCGACCCACCAC c.240
P P Y Y G N S V R A T V Q R Y P P T H H p.80
| 03 . . . . . . g.8660
G | GGAGCCAGGTGTGCCGCCCGCCTCTGCTTCATGGATCCCTACCCTGGCTGGACGGCGGC c.300
G | S Q V C R P P L L H G S L P W L D G G p.100
. . . . . . g.8720
AAAGCCCTGGGCAGCCACCACACCGCCTCCCCCTGGAATCTCAGCCCCTTCTCCAAGACG c.360
K A L G S H H T A S P W N L S P F S K T p.120
. . . . . . g.8780
TCCATCCACCACGGCTCCCCGGGGCCCCTCTCCGTCTACCCCCCGGCCTCGTCCTCCTCC c.420
S I H H G S P G P L S V Y P P A S S S S p.140
. . . . . . g.8840
TTGTCGGGGGGCCACGCCAGCCCGCACCTCTTCACCTTCCCGCCCACCCCGCCGAAGGAC c.480
L S G G H A S P H L F T F P P T P P K D p.160
. . . . . . g.8900
GTCTCCCCGGACCCATCGCTGTCCACCCCAGGCTCGGCCGGCTCGGCCCGGCAGGACGAG c.540
V S P D P S L S T P G S A G S A R Q D E p.180
. . . . . . g.8960
AAAGAGTGCCTCAAGTACCAGGTGCCCCTGCCCGACAGCATGAAGCTGGAGTCGTCCCAC c.600
K E C L K Y Q V P L P D S M K L E S S H p.200
. . . . . . g.9020
TCCCGTGGCAGCATGACCGCCCTGGGTGGAGCCTCCTCGTCGACCCACCACCCCATCACC c.660
S R G S M T A L G G A S S S T H H P I T p.220
. . . . . . g.9080
ACCTACCCGCCCTACGTGCCCGAGTACAGCTCCGGACTCTTCCCCCCCAGCAGCCTGCTG c.720
T Y P P Y V P E Y S S G L F P P S S L L p.240
. . . . . | 04 g.14291
GGCGGCTCCCCCACCGGCTTCGGATGCAAGTCCAGGCCCAAGGCCCGGTCCAGCACAG | AA c.780
G G S P T G F G C K S R P K A R S S T E | p.260
. . . . . . g.14351
GGCAGGGAGTGTGTGAACTGTGGGGCAACCTCGACCCCACTGTGGCGGCGAGATGGCACG c.840
G R E C V N C G A T S T P L W R R D G T p.280
. . . . . . g.14411
GGACACTACCTGTGCAACGCCTGCGGGCTCTATCACAAAATGAACGGACAGAACCGGCCC c.900
G H Y L C N A C G L Y H K M N G Q N R P p.300
. . | 05 . . . . g.19805
CTCATTAAGCCCAAGCGAAGGCTG | TCTGCAGCCAGGAGAGCAGGGACGTCCTGTGCGAAC c.960
L I K P K R R L | S A A R R A G T S C A N p.320
. . . . . . g.19865
TGTCAGACCACCACAACCACACTCTGGAGGAGGAATGCCAATGGGGACCCTGTCTGCAAT c.1020
C Q T T T T T L W R R N A N G D P V C N p.340
. . . | 06 . . . g.24065
GCCTGTGGGCTCTACTACAAGCTTCACAAT | ATTAACAGACCCCTGACTATGAAGAAGGAA c.1080
A C G L Y Y K L H N | I N R P L T M K K E p.360
. . . . . . g.24125
GGCATCCAGACCAGAAACCGAAAAATGTCTAGCAAATCCAAAAAGTGCAAAAAAGTGCAT c.1140
G I Q T R N R K M S S K S K K C K K V H p.380
. . . . . . g.24185
GACTCACTGGAGGACTTCCCCAAGAACAGCTCGTTTAACCCGGCCGCCCTCTCCAGACAC c.1200
D S L E D F P K N S S F N P A A L S R H p.400
. . . . . . g.24245
ATGTCCTCCCTGAGCCACATCTCGCCCTTCAGCCACTCCAGCCACATGCTGACCACGCCC c.1260
M S S L S H I S P F S H S S H M L T T P p.420
. . . . . . g.24305
ACGCCGATGCACCCGCCATCCAGCCTGTCCTTTGGACCACACCACCCCTCCAGCATGGTC c.1320
T P M H P P S S L S F G P H H P S S M V p.440
. g.24320
ACCGCCATGGGTTAG c.1335
T A M G X p.444
. . . . . . g.24380
agccctgctcgatgctcacagggcccccagcgagagtccctgcagtccctttcgacttgc c.*60
. . . . . . g.24440
atttttgcaggagcagtatcatgaagcctaaacgcgatggatatatgtttttgaaggcag c.*120
. . . . . . g.24500
aaagcaaaattatgtttgccactttgcaaaggagctcactgtggtgtctgtgttccaacc c.*180
. . . . . . g.24560
actgaatctggaccccatctgtgaataagccattctgactcatatcccctatttaacagg c.*240
. . . . . . g.24620
gtctctagtgctgtgaaaaaaaaaatgctgaacattgcatataacttatattgtaagaaa c.*300
. . . . . . g.24680
tactgtacaatgactttattgcatctgggtagctgtaaggcatgaaggatgccaagaagt c.*360
. . . . . . g.24740
ttaaggaatatgggagaaatagtgtggaaattaagaagaaactaggtctgatattcaaat c.*420
. . . . . . g.24800
ggacaaactgccagttttgtttcctttcactggccacagttgtttgatgcattaaaagaa c.*480
. . . . . . g.24860
aataaaaaaaagaaaaaagagaaaagaaaaaaaaagaaaaaagttgtaggcgaatcattt c.*540
. . . . . . g.24920
gttcaaagctgttggcctctgcaaaggaaataccagttctgggcaatcagtgttaccgtt c.*600
. . . . . . g.24980
caccagttgccgttgagggtttcagagagcctttttctaggcctacatgctttgtgaaca c.*660
. . . . . . g.25040
agtccctgtaattgttgtttgtatgtataattcaaagcaccaaaataagaaaagatgtag c.*720
. . . . . . g.25100
atttatttcatcatattatacagaccgaactgttgtataaatttatttactgctagtctt c.*780
. . . . . . g.25160
aagaactgctttctttcgtttgtttgtttcaatattttccttctctctcaatttttggtt c.*840
. . . . . . g.25220
gaataaactagattacattcagttggcctaaggtggttgtgctcggagggtttcttgttt c.*900
. . . . . . g.25280
cttttccattttgtttttggatgatatttattaaatagcttctaagagtccggcggcatc c.*960
. . . . . . g.25340
tgtcttgtccctattcctgcagcctgtgctgagggtagcagtgtatgagctaccagcgtg c.*1020
. . . . . . g.25400
catgtcagcgaccctggcccgacaggccacgtcctgcaatcggcccggctgcctcttcgc c.*1080
. . . . . . g.25460
cctgtcgtgttctgtgttagtgatcactgcctttaatacagtctgttggaataatattat c.*1140
. . . g.25498
aagcataataataaagtgaaaatattttaaaactacaa c.*1178
(downstream sequence)
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