Canonical Allele Identifier: CA916091011

Gene: GABRD

Linked Data

• dbSNP Id: rs1557444757
• gnomAD v3: 1-2024825-G-GC
• gnomAD v4: 1-2024825-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024831dup , CM000663.2:g.2024831dup	GRCh38
NC_000001.10:g.1956270dup , CM000663.1:g.1956270dup	GRCh37
NC_000001.9:g.1946130dup	NCBI36
NG_008168.1:g.10503dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-111dup MANE Select	ENSP00000367848.4:n.69-111dup
ENST00000638411.1:c.69-111dup	ENSP00000491632.1:n.69-111dup
ENST00000638604.1:n.133-111dup
ENST00000638771.1:c.69-111dup	ENSP00000492435.1:n.69-111dup
ENST00000639045.1:c.*55-111dup	ENSP00000491997.1:n.*55-111dup
ENST00000639777.1:n.562dup
ENST00000639935.1:n.106-111dup
ENST00000640030.1:c.9-111dup	ENSP00000491411.1:n.9-111dup
ENST00000640067.1:c.69-111dup	ENSP00000491844.1:n.69-111dup
ENST00000640423.1:n.78-111dup
ENST00000640949.1:c.69-111dup	ENSP00000492500.1:n.69-111dup
ENST00000378585.5:c.69-111dup	ENSP00000367848.4:n.69-111dup
NM_000815.4:c.69-111dup	NP_000806.2:n.69-111dup
XM_011541194.1:c.108-111dup	XP_011539496.1:n.108-111dup
XM_011541194.3:c.108-111dup	XP_011539496.1:n.108-111dup
XM_017000936.1:c.663dup	XP_016856425.1:p.Met222HisfsTer23
NM_000815.5:c.69-111dup MANE Select	NP_000806.2:n.69-111dup