Canonical Allele Identifier: CA1149429430

Gene: GABRD

Linked Data

• dbSNP Id: rs1658865809
• gnomAD v4: 1-2024497-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024500del , CM000663.2:g.2024500del	GRCh38
NC_000001.10:g.1955939del , CM000663.1:g.1955939del	GRCh37
NC_000001.9:g.1945799del	NCBI36
NG_008168.1:g.10172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-442del MANE Select	ENSP00000367848.4:n.69-442del
ENST00000638411.1:c.69-442del	ENSP00000491632.1:n.69-442del
ENST00000638604.1:n.133-442del
ENST00000638771.1:c.69-442del	ENSP00000492435.1:n.69-442del
ENST00000639045.1:c.*55-442del	ENSP00000491997.1:n.*55-442del
ENST00000639777.1:n.231del
ENST00000639935.1:n.106-442del
ENST00000640030.1:c.9-442del	ENSP00000491411.1:n.9-442del
ENST00000640067.1:c.69-442del	ENSP00000491844.1:n.69-442del
ENST00000640423.1:n.78-442del
ENST00000640949.1:c.69-442del	ENSP00000492500.1:n.69-442del
ENST00000378585.5:c.69-442del	ENSP00000367848.4:n.69-442del
NM_000815.4:c.69-442del	NP_000806.2:n.69-442del
XM_011541194.1:c.108-442del	XP_011539496.1:n.108-442del
XM_011541194.3:c.108-442del	XP_011539496.1:n.108-442del
XM_017000936.1:c.332del	XP_016856425.1:p.Asn111ThrfsTer3
NM_000815.5:c.69-442del MANE Select	NP_000806.2:n.69-442del