Canonical Allele Identifier: CA2642690627

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024648-CTCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024651_2024654del , CM000663.2:g.2024651_2024654del	GRCh38
NC_000001.10:g.1956090_1956093del , CM000663.1:g.1956090_1956093del	GRCh37
NC_000001.9:g.1945950_1945953del	NCBI36
NG_008168.1:g.10323_10326del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-291_69-288del MANE Select	ENSP00000367848.4:n.69-291_69-288del
ENST00000638411.1:c.69-291_69-288del	ENSP00000491632.1:n.69-291_69-288del
ENST00000638604.1:n.133-291_133-288del
ENST00000638771.1:c.69-291_69-288del	ENSP00000492435.1:n.69-291_69-288del
ENST00000639045.1:c.*55-291_*55-288del	ENSP00000491997.1:n.*55-291_*55-288del
ENST00000639777.1:n.382_385del
ENST00000639935.1:n.106-291_106-288del
ENST00000640030.1:c.9-291_9-288del	ENSP00000491411.1:n.9-291_9-288del
ENST00000640067.1:c.69-291_69-288del	ENSP00000491844.1:n.69-291_69-288del
ENST00000640423.1:n.78-291_78-288del
ENST00000640949.1:c.69-291_69-288del	ENSP00000492500.1:n.69-291_69-288del
ENST00000378585.5:c.69-291_69-288del	ENSP00000367848.4:n.69-291_69-288del
NM_000815.4:c.69-291_69-288del	NP_000806.2:n.69-291_69-288del
XM_011541194.1:c.108-291_108-288del	XP_011539496.1:n.108-291_108-288del
XM_011541194.3:c.108-291_108-288del	XP_011539496.1:n.108-291_108-288del
XM_017000936.1:c.483_486del	XP_016856425.1:p.Val162AsnfsTer16
NM_000815.5:c.69-291_69-288del MANE Select	NP_000806.2:n.69-291_69-288del