Canonical Allele Identifier: CA1149429449

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024509_2024510delinsTG , CM000663.2:g.2024509_2024510delinsTG	GRCh38
NC_000001.10:g.1955948_1955949delinsTG , CM000663.1:g.1955948_1955949delinsTG	GRCh37
NC_000001.9:g.1945808_1945809delinsTG	NCBI36
NG_008168.1:g.10181_10182delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-433_69-432delinsTG MANE Select	ENSP00000367848.4:n.69-433_69-432delinsTG
ENST00000638411.1:c.69-433_69-432delinsTG	ENSP00000491632.1:n.69-433_69-432delinsTG
ENST00000638604.1:n.133-433_133-432delinsTG
ENST00000638771.1:c.69-433_69-432delinsTG	ENSP00000492435.1:n.69-433_69-432delinsTG
ENST00000639045.1:c.*55-433_*55-432delinsTG	ENSP00000491997.1:n.*55-433_*55-432delinsTG
ENST00000639777.1:n.240_241delinsTG
ENST00000639935.1:n.106-433_106-432delinsTG
ENST00000640030.1:c.9-433_9-432delinsTG	ENSP00000491411.1:n.9-433_9-432delinsTG
ENST00000640067.1:c.69-433_69-432delinsTG	ENSP00000491844.1:n.69-433_69-432delinsTG
ENST00000640423.1:n.78-433_78-432delinsTG
ENST00000640949.1:c.69-433_69-432delinsTG	ENSP00000492500.1:n.69-433_69-432delinsTG
ENST00000378585.5:c.69-433_69-432delinsTG	ENSP00000367848.4:n.69-433_69-432delinsTG
NM_000815.4:c.69-433_69-432delinsTG	NP_000806.2:n.69-433_69-432delinsTG
XM_011541194.1:c.108-433_108-432delinsTG	XP_011539496.1:n.108-433_108-432delinsTG
XM_011541194.3:c.108-433_108-432delinsTG	XP_011539496.1:n.108-433_108-432delinsTG
XM_017000936.1:c.341_342delinsTG	XP_016856425.1:p.Met114=
NM_000815.5:c.69-433_69-432delinsTG MANE Select	NP_000806.2:n.69-433_69-432delinsTG