Canonical Allele Identifier: CA2740090371
Gene: GATAD2B HGNC NCBI

Linked Data

ClinVar Variation Id: 3027466
ClinVar RCV Id: RCV003886328

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153819652del , CM000663.2:g.153819652del GRCh38
NC_000001.10:g.153792128del , CM000663.1:g.153792128del GRCh37
NC_000001.9:g.152058752del NCBI36
NG_050988.1:g.108325del

Transcript Alleles

HGVS Amino-acid change
ENST00000703630.1:c.-4del ENSP00000515408.1:n.-4del
ENST00000368655.5:c.420del MANE Select ENSP00000357644.4:p.Arg141GlufsTer11
ENST00000368655.4:c.420del ENSP00000357644.4:p.Arg141GlufsTer11
ENST00000634401.1:c.420del ENSP00000489313.1:p.Arg141GlufsTer11
ENST00000634408.1:c.420del ENSP00000489595.1:p.Arg141GlufsTer11
ENST00000634544.1:c.420del ENSP00000489184.1:p.Arg141GlufsTer11
ENST00000634791.1:c.420del ENSP00000489566.1:p.Arg141GlufsTer?
NM_020699.2:c.420del NP_065750.1:p.Arg141GlufsTer11
XM_005245364.3:c.420del XP_005245421.1:p.Arg141GlufsTer11
XM_006711469.2:c.420del XP_006711532.1:p.Arg141GlufsTer11
XM_011509808.1:c.420del XP_011508110.1:p.Arg141GlufsTer11
NM_020699.3:c.420del NP_065750.1:p.Arg141GlufsTer11
XM_005245364.4:c.420del XP_005245421.1:p.Arg141GlufsTer11
XM_024448621.1:c.420del XP_024304389.1:p.Arg141GlufsTer11
NM_020699.4:c.420del MANE Select NP_065750.1:p.Arg141GlufsTer11