Canonical Allele Identifier: CA2642690611

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024633-G-GCTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024634_2024635insTCTC , CM000663.2:g.2024634_2024635insTCTC	GRCh38
NC_000001.10:g.1956073_1956074insTCTC , CM000663.1:g.1956073_1956074insTCTC	GRCh37
NC_000001.9:g.1945933_1945934insTCTC	NCBI36
NG_008168.1:g.10306_10307insTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-308_69-307insTCTC MANE Select	ENSP00000367848.4:n.69-308_69-307insTCTC
ENST00000638411.1:c.69-308_69-307insTCTC	ENSP00000491632.1:n.69-308_69-307insTCTC
ENST00000638604.1:n.133-308_133-307insTCTC
ENST00000638771.1:c.69-308_69-307insTCTC	ENSP00000492435.1:n.69-308_69-307insTCTC
ENST00000639045.1:c.*55-308_*55-307insTCTC	ENSP00000491997.1:n.*55-308_*55-307insTCTC
ENST00000639777.1:n.365_366insTCTC
ENST00000639935.1:n.106-308_106-307insTCTC
ENST00000640030.1:c.9-308_9-307insTCTC	ENSP00000491411.1:n.9-308_9-307insTCTC
ENST00000640067.1:c.69-308_69-307insTCTC	ENSP00000491844.1:n.69-308_69-307insTCTC
ENST00000640423.1:n.78-308_78-307insTCTC
ENST00000640949.1:c.69-308_69-307insTCTC	ENSP00000492500.1:n.69-308_69-307insTCTC
ENST00000378585.5:c.69-308_69-307insTCTC	ENSP00000367848.4:n.69-308_69-307insTCTC
NM_000815.4:c.69-308_69-307insTCTC	NP_000806.2:n.69-308_69-307insTCTC
XM_011541194.1:c.108-308_108-307insTCTC	XP_011539496.1:n.108-308_108-307insTCTC
XM_011541194.3:c.108-308_108-307insTCTC	XP_011539496.1:n.108-308_108-307insTCTC
XM_017000936.1:c.466_467insTCTC	XP_016856425.1:p.Pro156LeufsTer21
NM_000815.5:c.69-308_69-307insTCTC MANE Select	NP_000806.2:n.69-308_69-307insTCTC