Canonical Allele Identifier: CA2642690968

Gene: GABRD

Linked Data

• gnomAD v4: 1-2025044-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025045_2025046del , CM000663.2:g.2025045_2025046del	GRCh38
NC_000001.10:g.1956484_1956485del , CM000663.1:g.1956484_1956485del	GRCh37
NC_000001.9:g.1946344_1946345del	NCBI36
NG_008168.1:g.10717_10718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.172_173del MANE Select	ENSP00000367848.4:p.Gly58HisfsTer?
ENST00000638411.1:c.172_173del	ENSP00000491632.1:p.Gly58HisfsTer?
ENST00000638604.1:n.236_237del
ENST00000638771.1:c.172_173del	ENSP00000492435.1:p.Gly58HisfsTer?
ENST00000639045.1:c.*158_*159del	ENSP00000491997.1:n.*158_*159del
ENST00000639777.1:n.776_777del
ENST00000639935.1:n.209_210del
ENST00000640030.1:c.112_113del	ENSP00000491411.1:p.Gly38HisfsTer?
ENST00000640067.1:c.172_173del	ENSP00000491844.1:p.Gly58HisfsTer?
ENST00000640423.1:n.181_182del
ENST00000640949.1:c.172_173del	ENSP00000492500.1:p.Gly58HisfsTer?
ENST00000378585.5:c.172_173del	ENSP00000367848.4:p.Gly58HisfsTer?
NM_000815.4:c.172_173del	NP_000806.2:p.Gly58HisfsTer?
XM_011541194.1:c.211_212del	XP_011539496.1:p.Gly71HisfsTer?
XM_011541194.3:c.211_212del	XP_011539496.1:p.Gly71HisfsTer?
XM_017000936.1:c.877_878del	XP_016856425.1:p.Gly293HisfsTer?
NM_000815.5:c.172_173del MANE Select	NP_000806.2:p.Gly58HisfsTer?