Canonical Allele Identifier: CA1146555895

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024510_2024514delinsGGGGG , CM000663.2:g.2024510_2024514delinsGGGGG	GRCh38
NC_000001.10:g.1955949_1955953delinsGGGGG , CM000663.1:g.1955949_1955953delinsGGGGG	GRCh37
NC_000001.9:g.1945809_1945813delinsGGGGG	NCBI36
NG_008168.1:g.10182_10186delinsGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-432_69-428delinsGGGGG MANE Select	ENSP00000367848.4:n.69-432_69-428delinsGGGGG
ENST00000638411.1:c.69-432_69-428delinsGGGGG	ENSP00000491632.1:n.69-432_69-428delinsGGGGG
ENST00000638604.1:n.133-432_133-428delinsGGGGG
ENST00000638771.1:c.69-432_69-428delinsGGGGG	ENSP00000492435.1:n.69-432_69-428delinsGGGGG
ENST00000639045.1:c.*55-432_*55-428delinsGGGGG	ENSP00000491997.1:n.*55-432_*55-428delinsGGGGG
ENST00000639777.1:n.241_245delinsGGGGG
ENST00000639935.1:n.106-432_106-428delinsGGGGG
ENST00000640030.1:c.9-432_9-428delinsGGGGG	ENSP00000491411.1:n.9-432_9-428delinsGGGGG
ENST00000640067.1:c.69-432_69-428delinsGGGGG	ENSP00000491844.1:n.69-432_69-428delinsGGGGG
ENST00000640423.1:n.78-432_78-428delinsGGGGG
ENST00000640949.1:c.69-432_69-428delinsGGGGG	ENSP00000492500.1:n.69-432_69-428delinsGGGGG
ENST00000378585.5:c.69-432_69-428delinsGGGGG	ENSP00000367848.4:n.69-432_69-428delinsGGGGG
NM_000815.4:c.69-432_69-428delinsGGGGG	NP_000806.2:n.69-432_69-428delinsGGGGG
XM_011541194.1:c.108-432_108-428delinsGGGGG	XP_011539496.1:n.108-432_108-428delinsGGGGG
XM_011541194.3:c.108-432_108-428delinsGGGGG	XP_011539496.1:n.108-432_108-428delinsGGGGG
XM_017000936.1:c.342_346delinsGGGGG	XP_016856425.1:p.Met114=
NM_000815.5:c.69-432_69-428delinsGGGGG MANE Select	NP_000806.2:n.69-432_69-428delinsGGGGG