Canonical Allele Identifier: CA1149429905

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024922_2024923delinsCG , CM000663.2:g.2024922_2024923delinsCG	GRCh38
NC_000001.10:g.1956361_1956362delinsCG , CM000663.1:g.1956361_1956362delinsCG	GRCh37
NC_000001.9:g.1946221_1946222delinsCG	NCBI36
NG_008168.1:g.10594_10595delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-20_69-19delinsCG MANE Select	ENSP00000367848.4:n.69-20_69-19delinsCG
ENST00000638411.1:c.69-20_69-19delinsCG	ENSP00000491632.1:n.69-20_69-19delinsCG
ENST00000638604.1:n.133-20_133-19delinsCG
ENST00000638771.1:c.69-20_69-19delinsCG	ENSP00000492435.1:n.69-20_69-19delinsCG
ENST00000639045.1:c.*55-20_*55-19delinsCG	ENSP00000491997.1:n.*55-20_*55-19delinsCG
ENST00000639777.1:n.653_654delinsCG
ENST00000639935.1:n.106-20_106-19delinsCG
ENST00000640030.1:c.9-20_9-19delinsCG	ENSP00000491411.1:n.9-20_9-19delinsCG
ENST00000640067.1:c.69-20_69-19delinsCG	ENSP00000491844.1:n.69-20_69-19delinsCG
ENST00000640423.1:n.78-20_78-19delinsCG
ENST00000640949.1:c.69-20_69-19delinsCG	ENSP00000492500.1:n.69-20_69-19delinsCG
ENST00000378585.5:c.69-20_69-19delinsCG	ENSP00000367848.4:n.69-20_69-19delinsCG
NM_000815.4:c.69-20_69-19delinsCG	NP_000806.2:n.69-20_69-19delinsCG
XM_011541194.1:c.108-20_108-19delinsCG	XP_011539496.1:n.108-20_108-19delinsCG
XM_011541194.3:c.108-20_108-19delinsCG	XP_011539496.1:n.108-20_108-19delinsCG
XM_017000936.1:c.754_755delinsCG	XP_016856425.1:p.Arg252=
NM_000815.5:c.69-20_69-19delinsCG MANE Select	NP_000806.2:n.69-20_69-19delinsCG