Canonical Allele Identifier: CA2642690465

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024537-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024538_2024539del , CM000663.2:g.2024538_2024539del	GRCh38
NC_000001.10:g.1955977_1955978del , CM000663.1:g.1955977_1955978del	GRCh37
NC_000001.9:g.1945837_1945838del	NCBI36
NG_008168.1:g.10210_10211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-404_69-403del MANE Select	ENSP00000367848.4:n.69-404_69-403del
ENST00000638411.1:c.69-404_69-403del	ENSP00000491632.1:n.69-404_69-403del
ENST00000638604.1:n.133-404_133-403del
ENST00000638771.1:c.69-404_69-403del	ENSP00000492435.1:n.69-404_69-403del
ENST00000639045.1:c.*55-404_*55-403del	ENSP00000491997.1:n.*55-404_*55-403del
ENST00000639777.1:n.269_270del
ENST00000639935.1:n.106-404_106-403del
ENST00000640030.1:c.9-404_9-403del	ENSP00000491411.1:n.9-404_9-403del
ENST00000640067.1:c.69-404_69-403del	ENSP00000491844.1:n.69-404_69-403del
ENST00000640423.1:n.78-404_78-403del
ENST00000640949.1:c.69-404_69-403del	ENSP00000492500.1:n.69-404_69-403del
ENST00000378585.5:c.69-404_69-403del	ENSP00000367848.4:n.69-404_69-403del
NM_000815.4:c.69-404_69-403del	NP_000806.2:n.69-404_69-403del
XM_011541194.1:c.108-404_108-403del	XP_011539496.1:n.108-404_108-403del
XM_011541194.3:c.108-404_108-403del	XP_011539496.1:n.108-404_108-403del
XM_017000936.1:c.370_371del	XP_016856425.1:p.Arg124GlyfsTer27
NM_000815.5:c.69-404_69-403del MANE Select	NP_000806.2:n.69-404_69-403del