Canonical Allele Identifier: CA1149429919

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024925_2024926delinsTG , CM000663.2:g.2024925_2024926delinsTG	GRCh38
NC_000001.10:g.1956364_1956365delinsTG , CM000663.1:g.1956364_1956365delinsTG	GRCh37
NC_000001.9:g.1946224_1946225delinsTG	NCBI36
NG_008168.1:g.10597_10598delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-17_69-16delinsTG MANE Select	ENSP00000367848.4:n.69-17_69-16delinsTG
ENST00000638411.1:c.69-17_69-16delinsTG	ENSP00000491632.1:n.69-17_69-16delinsTG
ENST00000638604.1:n.133-17_133-16delinsTG
ENST00000638771.1:c.69-17_69-16delinsTG	ENSP00000492435.1:n.69-17_69-16delinsTG
ENST00000639045.1:c.*55-17_*55-16delinsTG	ENSP00000491997.1:n.*55-17_*55-16delinsTG
ENST00000639777.1:n.656_657delinsTG
ENST00000639935.1:n.106-17_106-16delinsTG
ENST00000640030.1:c.9-17_9-16delinsTG	ENSP00000491411.1:n.9-17_9-16delinsTG
ENST00000640067.1:c.69-17_69-16delinsTG	ENSP00000491844.1:n.69-17_69-16delinsTG
ENST00000640423.1:n.78-17_78-16delinsTG
ENST00000640949.1:c.69-17_69-16delinsTG	ENSP00000492500.1:n.69-17_69-16delinsTG
ENST00000378585.5:c.69-17_69-16delinsTG	ENSP00000367848.4:n.69-17_69-16delinsTG
NM_000815.4:c.69-17_69-16delinsTG	NP_000806.2:n.69-17_69-16delinsTG
XM_011541194.1:c.108-17_108-16delinsTG	XP_011539496.1:n.108-17_108-16delinsTG
XM_011541194.3:c.108-17_108-16delinsTG	XP_011539496.1:n.108-17_108-16delinsTG
XM_017000936.1:c.757_758delinsTG	XP_016856425.1:p.Trp253=
NM_000815.5:c.69-17_69-16delinsTG MANE Select	NP_000806.2:n.69-17_69-16delinsTG