Canonical Allele Identifier: CA2642690662

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024671-CCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024673_2024675del , CM000663.2:g.2024673_2024675del	GRCh38
NC_000001.10:g.1956112_1956114del , CM000663.1:g.1956112_1956114del	GRCh37
NC_000001.9:g.1945972_1945974del	NCBI36
NG_008168.1:g.10345_10347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-269_69-267del MANE Select	ENSP00000367848.4:n.69-269_69-267del
ENST00000638411.1:c.69-269_69-267del	ENSP00000491632.1:n.69-269_69-267del
ENST00000638604.1:n.133-269_133-267del
ENST00000638771.1:c.69-269_69-267del	ENSP00000492435.1:n.69-269_69-267del
ENST00000639045.1:c.*55-269_*55-267del	ENSP00000491997.1:n.*55-269_*55-267del
ENST00000639777.1:n.404_406del
ENST00000639935.1:n.106-269_106-267del
ENST00000640030.1:c.9-269_9-267del	ENSP00000491411.1:n.9-269_9-267del
ENST00000640067.1:c.69-269_69-267del	ENSP00000491844.1:n.69-269_69-267del
ENST00000640423.1:n.78-269_78-267del
ENST00000640949.1:c.69-269_69-267del	ENSP00000492500.1:n.69-269_69-267del
ENST00000378585.5:c.69-269_69-267del	ENSP00000367848.4:n.69-269_69-267del
NM_000815.4:c.69-269_69-267del	NP_000806.2:n.69-269_69-267del
XM_011541194.1:c.108-269_108-267del	XP_011539496.1:n.108-269_108-267del
XM_011541194.3:c.108-269_108-267del	XP_011539496.1:n.108-269_108-267del
XM_017000936.1:c.505_507del	XP_016856425.1:p.Leu169del
NM_000815.5:c.69-269_69-267del MANE Select	NP_000806.2:n.69-269_69-267del