Canonical Allele Identifier: CA16616980
Gene: GATAD2B HGNC NCBI

Linked Data

ClinVar Variation Id: 419264
ClinVar RCV Id: RCV000484072
dbSNP Id: rs1064793756
MyVariant Identifiers: chr1:g.153791369dupA (hg19) chr1:g.153791368_153791369insA (hg19) chr1:g.153818893dupA (hg38) chr1:g.153818892_153818893insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153818894dup , CM000663.2:g.153818894dup GRCh38
NC_000001.10:g.153791370dup , CM000663.1:g.153791370dup GRCh37
NC_000001.9:g.152057994dup NCBI36
NG_050988.1:g.109083dup

Transcript Alleles

HGVS Amino-acid change
ENST00000703630.1:c.72dup ENSP00000515408.1:p.Ile25TyrfsTer7
ENST00000368655.5:c.495dup MANE Select ENSP00000357644.4:p.Ile166TyrfsTer7
ENST00000368655.4:c.495dup ENSP00000357644.4:p.Ile166TyrfsTer7
ENST00000634401.1:c.495dup ENSP00000489313.1:p.Ile166TyrfsTer7
ENST00000634408.1:c.495dup ENSP00000489595.1:p.Ile166TyrfsTer7
ENST00000634544.1:c.495dup ENSP00000489184.1:p.Ile166TyrfsTer7
NM_020699.2:c.495dup NP_065750.1:p.Ile166TyrfsTer7
XM_005245364.3:c.495dup XP_005245421.1:p.Ile166TyrfsTer7
XM_006711469.2:c.495dup XP_006711532.1:p.Ile166TyrfsTer7
XM_011509808.1:c.495dup XP_011508110.1:p.Ile166TyrfsTer7
NM_020699.3:c.495dup NP_065750.1:p.Ile166TyrfsTer7
XM_005245364.4:c.495dup XP_005245421.1:p.Ile166TyrfsTer7
XM_024448621.1:c.495dup XP_024304389.1:p.Ile166TyrfsTer7
NM_020699.4:c.495dup MANE Select NP_065750.1:p.Ile166TyrfsTer7
Search 100 bp 5'
Search 100 bp 3'