Canonical Allele Identifier: CA2642690498

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024550-T-TTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024551_2024552dup , CM000663.2:g.2024551_2024552dup	GRCh38
NC_000001.10:g.1955990_1955991dup , CM000663.1:g.1955990_1955991dup	GRCh37
NC_000001.9:g.1945850_1945851dup	NCBI36
NG_008168.1:g.10223_10224dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-391_69-390dup MANE Select	ENSP00000367848.4:n.69-391_69-390dup
ENST00000638411.1:c.69-391_69-390dup	ENSP00000491632.1:n.69-391_69-390dup
ENST00000638604.1:n.133-391_133-390dup
ENST00000638771.1:c.69-391_69-390dup	ENSP00000492435.1:n.69-391_69-390dup
ENST00000639045.1:c.*55-391_*55-390dup	ENSP00000491997.1:n.*55-391_*55-390dup
ENST00000639777.1:n.282_283dup
ENST00000639935.1:n.106-391_106-390dup
ENST00000640030.1:c.9-391_9-390dup	ENSP00000491411.1:n.9-391_9-390dup
ENST00000640067.1:c.69-391_69-390dup	ENSP00000491844.1:n.69-391_69-390dup
ENST00000640423.1:n.78-391_78-390dup
ENST00000640949.1:c.69-391_69-390dup	ENSP00000492500.1:n.69-391_69-390dup
ENST00000378585.5:c.69-391_69-390dup	ENSP00000367848.4:n.69-391_69-390dup
NM_000815.4:c.69-391_69-390dup	NP_000806.2:n.69-391_69-390dup
XM_011541194.1:c.108-391_108-390dup	XP_011539496.1:n.108-391_108-390dup
XM_011541194.3:c.108-391_108-390dup	XP_011539496.1:n.108-391_108-390dup
XM_017000936.1:c.383_384dup	XP_016856425.1:p.Val129TrpfsTer2
NM_000815.5:c.69-391_69-390dup MANE Select	NP_000806.2:n.69-391_69-390dup