Canonical Allele Identifier: CA1120875

Gene: GATAD2B

Linked Data

• ClinVar Variation Id: 801548
• ClinVar RCV Id: RCV000986417
• dbSNP Id: rs756062872
• ExAC: 1:153792159 CA / C
• gnomAD v2: 1-153792159-CA-C
• MyVariant Identifiers: chr1:g.153792160del (hg19) ; chr1:g.153819684del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153819684del , CM000663.2:g.153819684del	GRCh38
NC_000001.10:g.153792160del , CM000663.1:g.153792160del	GRCh37
NC_000001.9:g.152058784del	NCBI36
NG_050988.1:g.108292del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703630.1:c.-37del	ENSP00000515408.1:n.-37del
ENST00000368655.5:c.387del MANE Select	ENSP00000357644.4:p.Asp130ThrfsTer22
ENST00000638051.1:n.105del
ENST00000368655.4:c.387del	ENSP00000357644.4:p.Asp130ThrfsTer22
ENST00000634401.1:c.387del	ENSP00000489313.1:p.Asp130ThrfsTer22
ENST00000634408.1:c.387del	ENSP00000489595.1:p.Asp130ThrfsTer22
ENST00000634544.1:c.387del	ENSP00000489184.1:p.Asp130ThrfsTer22
ENST00000634791.1:c.387del	ENSP00000489566.1:p.Asp130ThrfsTer?
NM_020699.2:c.387del	NP_065750.1:p.Asp130ThrfsTer22
XM_005245364.3:c.387del	XP_005245421.1:p.Asp130ThrfsTer22
XM_006711469.2:c.387del	XP_006711532.1:p.Asp130ThrfsTer22
XM_011509808.1:c.387del	XP_011508110.1:p.Asp130ThrfsTer22
NM_020699.3:c.387del	NP_065750.1:p.Asp130ThrfsTer22
XM_005245364.4:c.387del	XP_005245421.1:p.Asp130ThrfsTer22
XM_024448621.1:c.387del	XP_024304389.1:p.Asp130ThrfsTer22
NM_020699.4:c.387del MANE Select	NP_065750.1:p.Asp130ThrfsTer22