Canonical Allele Identifier: CA2642690636

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024656-A-ATCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024656_2024657insTCAG , CM000663.2:g.2024656_2024657insTCAG	GRCh38
NC_000001.10:g.1956095_1956096insTCAG , CM000663.1:g.1956095_1956096insTCAG	GRCh37
NC_000001.9:g.1945955_1945956insTCAG	NCBI36
NG_008168.1:g.10328_10329insTCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-286_69-285insTCAG MANE Select	ENSP00000367848.4:n.69-286_69-285insTCAG
ENST00000638411.1:c.69-286_69-285insTCAG	ENSP00000491632.1:n.69-286_69-285insTCAG
ENST00000638604.1:n.133-286_133-285insTCAG
ENST00000638771.1:c.69-286_69-285insTCAG	ENSP00000492435.1:n.69-286_69-285insTCAG
ENST00000639045.1:c.*55-286_*55-285insTCAG	ENSP00000491997.1:n.*55-286_*55-285insTCAG
ENST00000639777.1:n.387_388insTCAG
ENST00000639935.1:n.106-286_106-285insTCAG
ENST00000640030.1:c.9-286_9-285insTCAG	ENSP00000491411.1:n.9-286_9-285insTCAG
ENST00000640067.1:c.69-286_69-285insTCAG	ENSP00000491844.1:n.69-286_69-285insTCAG
ENST00000640423.1:n.78-286_78-285insTCAG
ENST00000640949.1:c.69-286_69-285insTCAG	ENSP00000492500.1:n.69-286_69-285insTCAG
ENST00000378585.5:c.69-286_69-285insTCAG	ENSP00000367848.4:n.69-286_69-285insTCAG
NM_000815.4:c.69-286_69-285insTCAG	NP_000806.2:n.69-286_69-285insTCAG
XM_011541194.1:c.108-286_108-285insTCAG	XP_011539496.1:n.108-286_108-285insTCAG
XM_011541194.3:c.108-286_108-285insTCAG	XP_011539496.1:n.108-286_108-285insTCAG
XM_017000936.1:c.488_489insTCAG	XP_016856425.1:p.Gln163HisfsTer14
NM_000815.5:c.69-286_69-285insTCAG MANE Select	NP_000806.2:n.69-286_69-285insTCAG