Canonical Allele Identifier: CA2642690526

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024565-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024568_2024569del , CM000663.2:g.2024568_2024569del	GRCh38
NC_000001.10:g.1956007_1956008del , CM000663.1:g.1956007_1956008del	GRCh37
NC_000001.9:g.1945867_1945868del	NCBI36
NG_008168.1:g.10240_10241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-374_69-373del MANE Select	ENSP00000367848.4:n.69-374_69-373del
ENST00000638411.1:c.69-374_69-373del	ENSP00000491632.1:n.69-374_69-373del
ENST00000638604.1:n.133-374_133-373del
ENST00000638771.1:c.69-374_69-373del	ENSP00000492435.1:n.69-374_69-373del
ENST00000639045.1:c.*55-374_*55-373del	ENSP00000491997.1:n.*55-374_*55-373del
ENST00000639777.1:n.299_300del
ENST00000639935.1:n.106-374_106-373del
ENST00000640030.1:c.9-374_9-373del	ENSP00000491411.1:n.9-374_9-373del
ENST00000640067.1:c.69-374_69-373del	ENSP00000491844.1:n.69-374_69-373del
ENST00000640423.1:n.78-374_78-373del
ENST00000640949.1:c.69-374_69-373del	ENSP00000492500.1:n.69-374_69-373del
ENST00000378585.5:c.69-374_69-373del	ENSP00000367848.4:n.69-374_69-373del
NM_000815.4:c.69-374_69-373del	NP_000806.2:n.69-374_69-373del
XM_011541194.1:c.108-374_108-373del	XP_011539496.1:n.108-374_108-373del
XM_011541194.3:c.108-374_108-373del	XP_011539496.1:n.108-374_108-373del
XM_017000936.1:c.400_401del	XP_016856425.1:p.Gly134TrpfsTer17
NM_000815.5:c.69-374_69-373del MANE Select	NP_000806.2:n.69-374_69-373del