Canonical Allele Identifier: CA2642690483

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024544-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024545_2024546del , CM000663.2:g.2024545_2024546del	GRCh38
NC_000001.10:g.1955984_1955985del , CM000663.1:g.1955984_1955985del	GRCh37
NC_000001.9:g.1945844_1945845del	NCBI36
NG_008168.1:g.10217_10218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-397_69-396del MANE Select	ENSP00000367848.4:n.69-397_69-396del
ENST00000638411.1:c.69-397_69-396del	ENSP00000491632.1:n.69-397_69-396del
ENST00000638604.1:n.133-397_133-396del
ENST00000638771.1:c.69-397_69-396del	ENSP00000492435.1:n.69-397_69-396del
ENST00000639045.1:c.*55-397_*55-396del	ENSP00000491997.1:n.*55-397_*55-396del
ENST00000639777.1:n.276_277del
ENST00000639935.1:n.106-397_106-396del
ENST00000640030.1:c.9-397_9-396del	ENSP00000491411.1:n.9-397_9-396del
ENST00000640067.1:c.69-397_69-396del	ENSP00000491844.1:n.69-397_69-396del
ENST00000640423.1:n.78-397_78-396del
ENST00000640949.1:c.69-397_69-396del	ENSP00000492500.1:n.69-397_69-396del
ENST00000378585.5:c.69-397_69-396del	ENSP00000367848.4:n.69-397_69-396del
NM_000815.4:c.69-397_69-396del	NP_000806.2:n.69-397_69-396del
XM_011541194.1:c.108-397_108-396del	XP_011539496.1:n.108-397_108-396del
XM_011541194.3:c.108-397_108-396del	XP_011539496.1:n.108-397_108-396del
XM_017000936.1:c.377_378del	XP_016856425.1:p.Thr126IlefsTer25
NM_000815.5:c.69-397_69-396del MANE Select	NP_000806.2:n.69-397_69-396del