Canonical Allele Identifier: CA1149429400

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024472_2024475delinsGCCT , CM000663.2:g.2024472_2024475delinsGCCT	GRCh38
NC_000001.10:g.1955911_1955914delinsGCCT , CM000663.1:g.1955911_1955914delinsGCCT	GRCh37
NC_000001.9:g.1945771_1945774delinsGCCT	NCBI36
NG_008168.1:g.10144_10147delinsGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-470_69-467delinsGCCT MANE Select	ENSP00000367848.4:n.69-470_69-467delinsGCCT
ENST00000638411.1:c.69-470_69-467delinsGCCT	ENSP00000491632.1:n.69-470_69-467delinsGCCT
ENST00000638604.1:n.133-470_133-467delinsGCCT
ENST00000638771.1:c.69-470_69-467delinsGCCT	ENSP00000492435.1:n.69-470_69-467delinsGCCT
ENST00000639045.1:c.*55-470_*55-467delinsGCCT	ENSP00000491997.1:n.*55-470_*55-467delinsGCCT
ENST00000639777.1:n.203_206delinsGCCT
ENST00000639935.1:n.106-470_106-467delinsGCCT
ENST00000640030.1:c.9-470_9-467delinsGCCT	ENSP00000491411.1:n.9-470_9-467delinsGCCT
ENST00000640067.1:c.69-470_69-467delinsGCCT	ENSP00000491844.1:n.69-470_69-467delinsGCCT
ENST00000640423.1:n.78-470_78-467delinsGCCT
ENST00000640949.1:c.69-470_69-467delinsGCCT	ENSP00000492500.1:n.69-470_69-467delinsGCCT
ENST00000378585.5:c.69-470_69-467delinsGCCT	ENSP00000367848.4:n.69-470_69-467delinsGCCT
NM_000815.4:c.69-470_69-467delinsGCCT	NP_000806.2:n.69-470_69-467delinsGCCT
XM_011541194.1:c.108-470_108-467delinsGCCT	XP_011539496.1:n.108-470_108-467delinsGCCT
XM_011541194.3:c.108-470_108-467delinsGCCT	XP_011539496.1:n.108-470_108-467delinsGCCT
XM_017000936.1:c.304_307delinsGCCT	XP_016856425.1:p.Ala102=
NM_000815.5:c.69-470_69-467delinsGCCT MANE Select	NP_000806.2:n.69-470_69-467delinsGCCT