Canonical Allele Identifier: CA1149429830

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024866_2024867delinsTC , CM000663.2:g.2024866_2024867delinsTC	GRCh38
NC_000001.10:g.1956305_1956306delinsTC , CM000663.1:g.1956305_1956306delinsTC	GRCh37
NC_000001.9:g.1946165_1946166delinsTC	NCBI36
NG_008168.1:g.10538_10539delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-76_69-75delinsTC MANE Select	ENSP00000367848.4:n.69-76_69-75delinsTC
ENST00000638411.1:c.69-76_69-75delinsTC	ENSP00000491632.1:n.69-76_69-75delinsTC
ENST00000638604.1:n.133-76_133-75delinsTC
ENST00000638771.1:c.69-76_69-75delinsTC	ENSP00000492435.1:n.69-76_69-75delinsTC
ENST00000639045.1:c.*55-76_*55-75delinsTC	ENSP00000491997.1:n.*55-76_*55-75delinsTC
ENST00000639777.1:n.597_598delinsTC
ENST00000639935.1:n.106-76_106-75delinsTC
ENST00000640030.1:c.9-76_9-75delinsTC	ENSP00000491411.1:n.9-76_9-75delinsTC
ENST00000640067.1:c.69-76_69-75delinsTC	ENSP00000491844.1:n.69-76_69-75delinsTC
ENST00000640423.1:n.78-76_78-75delinsTC
ENST00000640949.1:c.69-76_69-75delinsTC	ENSP00000492500.1:n.69-76_69-75delinsTC
ENST00000378585.5:c.69-76_69-75delinsTC	ENSP00000367848.4:n.69-76_69-75delinsTC
NM_000815.4:c.69-76_69-75delinsTC	NP_000806.2:n.69-76_69-75delinsTC
XM_011541194.1:c.108-76_108-75delinsTC	XP_011539496.1:n.108-76_108-75delinsTC
XM_011541194.3:c.108-76_108-75delinsTC	XP_011539496.1:n.108-76_108-75delinsTC
XM_017000936.1:c.698_699delinsTC	XP_016856425.1:p.Ile233=
NM_000815.5:c.69-76_69-75delinsTC MANE Select	NP_000806.2:n.69-76_69-75delinsTC