Canonical Allele Identifier: CA1149429359

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024443_2024444delinsGC , CM000663.2:g.2024443_2024444delinsGC	GRCh38
NC_000001.10:g.1955882_1955883delinsGC , CM000663.1:g.1955882_1955883delinsGC	GRCh37
NC_000001.9:g.1945742_1945743delinsGC	NCBI36
NG_008168.1:g.10115_10116delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-499_69-498delinsGC MANE Select	ENSP00000367848.4:n.69-499_69-498delinsGC
ENST00000638411.1:c.69-499_69-498delinsGC	ENSP00000491632.1:n.69-499_69-498delinsGC
ENST00000638604.1:n.133-499_133-498delinsGC
ENST00000638771.1:c.69-499_69-498delinsGC	ENSP00000492435.1:n.69-499_69-498delinsGC
ENST00000639045.1:c.*55-499_*55-498delinsGC	ENSP00000491997.1:n.*55-499_*55-498delinsGC
ENST00000639777.1:n.174_175delinsGC
ENST00000639935.1:n.106-499_106-498delinsGC
ENST00000640030.1:c.9-499_9-498delinsGC	ENSP00000491411.1:n.9-499_9-498delinsGC
ENST00000640067.1:c.69-499_69-498delinsGC	ENSP00000491844.1:n.69-499_69-498delinsGC
ENST00000640423.1:n.78-499_78-498delinsGC
ENST00000640949.1:c.69-499_69-498delinsGC	ENSP00000492500.1:n.69-499_69-498delinsGC
ENST00000378585.5:c.69-499_69-498delinsGC	ENSP00000367848.4:n.69-499_69-498delinsGC
NM_000815.4:c.69-499_69-498delinsGC	NP_000806.2:n.69-499_69-498delinsGC
XM_011541194.1:c.108-499_108-498delinsGC	XP_011539496.1:n.108-499_108-498delinsGC
XM_011541194.3:c.108-499_108-498delinsGC	XP_011539496.1:n.108-499_108-498delinsGC
XM_017000936.1:c.275_276delinsGC	XP_016856425.1:p.Gly92=
NM_000815.5:c.69-499_69-498delinsGC MANE Select	NP_000806.2:n.69-499_69-498delinsGC