Canonical Allele Identifier: CA2586967315
Gene: GATAD2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153819691del , CM000663.2:g.153819691del GRCh38
NC_000001.10:g.153792167del , CM000663.1:g.153792167del GRCh37
NC_000001.9:g.152058791del NCBI36
NG_050988.1:g.108288del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703630.1:c.-41del ENSP00000515408.1:n.-41del
ENST00000368655.5:c.383del MANE Select ENSP00000357644.4:p.Leu128CysfsTer24
ENST00000638051.1:n.101del
ENST00000368655.4:c.383del ENSP00000357644.4:p.Leu128CysfsTer24
ENST00000634401.1:c.383del ENSP00000489313.1:p.Leu128CysfsTer24
ENST00000634408.1:c.383del ENSP00000489595.1:p.Leu128CysfsTer24
ENST00000634544.1:c.383del ENSP00000489184.1:p.Leu128CysfsTer24
ENST00000634791.1:c.383del ENSP00000489566.1:p.Leu128CysfsTer?
NM_020699.2:c.383del NP_065750.1:p.Leu128CysfsTer24
XM_005245364.3:c.383del XP_005245421.1:p.Leu128CysfsTer24
XM_006711469.2:c.383del XP_006711532.1:p.Leu128CysfsTer24
XM_011509808.1:c.383del XP_011508110.1:p.Leu128CysfsTer24
NM_020699.3:c.383del NP_065750.1:p.Leu128CysfsTer24
XM_005245364.4:c.383del XP_005245421.1:p.Leu128CysfsTer24
XM_024448621.1:c.383del XP_024304389.1:p.Leu128CysfsTer24
NM_020699.4:c.383del MANE Select NP_065750.1:p.Leu128CysfsTer24