Canonical Allele Identifier: CA534499

Gene: GABRD

Linked Data

• dbSNP Id: rs760530641
• ExAC: 1:1956361 CG / C
• gnomAD v2: 1-1956361-CG-C
• gnomAD v4: 1-2024922-CG-C
• MyVariant Identifiers: chr1:g.1956362del (hg19) ; chr1:g.2024923del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024924del , CM000663.2:g.2024924del	GRCh38
NC_000001.10:g.1956363del , CM000663.1:g.1956363del	GRCh37
NC_000001.9:g.1946223del	NCBI36
NG_008168.1:g.10596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-18del MANE Select	ENSP00000367848.4:n.69-18del
ENST00000638411.1:c.69-18del	ENSP00000491632.1:n.69-18del
ENST00000638604.1:n.133-18del
ENST00000638771.1:c.69-18del	ENSP00000492435.1:n.69-18del
ENST00000639045.1:c.*55-18del	ENSP00000491997.1:n.*55-18del
ENST00000639777.1:n.655del
ENST00000639935.1:n.106-18del
ENST00000640030.1:c.9-18del	ENSP00000491411.1:n.9-18del
ENST00000640067.1:c.69-18del	ENSP00000491844.1:n.69-18del
ENST00000640423.1:n.78-18del
ENST00000640949.1:c.69-18del	ENSP00000492500.1:n.69-18del
ENST00000378585.5:c.69-18del	ENSP00000367848.4:n.69-18del
NM_000815.4:c.69-18del	NP_000806.2:n.69-18del
XM_011541194.1:c.108-18del	XP_011539496.1:n.108-18del
XM_011541194.3:c.108-18del	XP_011539496.1:n.108-18del
XM_017000936.1:c.756del	XP_016856425.1:p.Trp253GlyfsTer8
NM_000815.5:c.69-18del MANE Select	NP_000806.2:n.69-18del