Canonical Allele Identifier: CA2532379690
Gene: GATAD2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153819691_153819695del , CM000663.2:g.153819691_153819695del GRCh38
NC_000001.10:g.153792167_153792171del , CM000663.1:g.153792167_153792171del GRCh37
NC_000001.9:g.152058791_152058795del NCBI36
NG_050988.1:g.108281_108285del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703630.1:c.-48_-44del ENSP00000515408.1:n.-48_-44del
ENST00000368655.5:c.376_380del MANE Select ENSP00000357644.4:p.Ile126PhefsTer3
ENST00000638051.1:n.94_98del
ENST00000368655.4:c.376_380del ENSP00000357644.4:p.Ile126PhefsTer3
ENST00000634401.1:c.376_380del ENSP00000489313.1:p.Ile126PhefsTer3
ENST00000634408.1:c.376_380del ENSP00000489595.1:p.Ile126PhefsTer3
ENST00000634544.1:c.376_380del ENSP00000489184.1:p.Ile126PhefsTer3
ENST00000634791.1:c.376_380del ENSP00000489566.1:p.Ile126PhefsTer3
NM_020699.2:c.376_380del NP_065750.1:p.Ile126PhefsTer3
XM_005245364.3:c.376_380del XP_005245421.1:p.Ile126PhefsTer3
XM_006711469.2:c.376_380del XP_006711532.1:p.Ile126PhefsTer3
XM_011509808.1:c.376_380del XP_011508110.1:p.Ile126PhefsTer3
NM_020699.3:c.376_380del NP_065750.1:p.Ile126PhefsTer3
XM_005245364.4:c.376_380del XP_005245421.1:p.Ile126PhefsTer3
XM_024448621.1:c.376_380del XP_024304389.1:p.Ile126PhefsTer3
NM_020699.4:c.376_380del MANE Select NP_065750.1:p.Ile126PhefsTer3