Canonical Allele Identifier: CA2642690354

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024466-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024466_2024467insT , CM000663.2:g.2024466_2024467insT	GRCh38
NC_000001.10:g.1955905_1955906insT , CM000663.1:g.1955905_1955906insT	GRCh37
NC_000001.9:g.1945765_1945766insT	NCBI36
NG_008168.1:g.10138_10139insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-476_69-475insT MANE Select	ENSP00000367848.4:n.69-476_69-475insT
ENST00000638411.1:c.69-476_69-475insT	ENSP00000491632.1:n.69-476_69-475insT
ENST00000638604.1:n.133-476_133-475insT
ENST00000638771.1:c.69-476_69-475insT	ENSP00000492435.1:n.69-476_69-475insT
ENST00000639045.1:c.*55-476_*55-475insT	ENSP00000491997.1:n.*55-476_*55-475insT
ENST00000639777.1:n.197_198insT
ENST00000639935.1:n.106-476_106-475insT
ENST00000640030.1:c.9-476_9-475insT	ENSP00000491411.1:n.9-476_9-475insT
ENST00000640067.1:c.69-476_69-475insT	ENSP00000491844.1:n.69-476_69-475insT
ENST00000640423.1:n.78-476_78-475insT
ENST00000640949.1:c.69-476_69-475insT	ENSP00000492500.1:n.69-476_69-475insT
ENST00000378585.5:c.69-476_69-475insT	ENSP00000367848.4:n.69-476_69-475insT
NM_000815.4:c.69-476_69-475insT	NP_000806.2:n.69-476_69-475insT
XM_011541194.1:c.108-476_108-475insT	XP_011539496.1:n.108-476_108-475insT
XM_011541194.3:c.108-476_108-475insT	XP_011539496.1:n.108-476_108-475insT
XM_017000936.1:c.298_299insT	XP_016856425.1:p.Pro100LeufsTer?
NM_000815.5:c.69-476_69-475insT MANE Select	NP_000806.2:n.69-476_69-475insT