Canonical Allele Identifier: CA1149429809

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024831_2024832delinsCA , CM000663.2:g.2024831_2024832delinsCA	GRCh38
NC_000001.10:g.1956270_1956271delinsCA , CM000663.1:g.1956270_1956271delinsCA	GRCh37
NC_000001.9:g.1946130_1946131delinsCA	NCBI36
NG_008168.1:g.10503_10504delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-111_69-110delinsCA MANE Select	ENSP00000367848.4:n.69-111_69-110delinsCA
ENST00000638411.1:c.69-111_69-110delinsCA	ENSP00000491632.1:n.69-111_69-110delinsCA
ENST00000638604.1:n.133-111_133-110delinsCA
ENST00000638771.1:c.69-111_69-110delinsCA	ENSP00000492435.1:n.69-111_69-110delinsCA
ENST00000639045.1:c.*55-111_*55-110delinsCA	ENSP00000491997.1:n.*55-111_*55-110delinsCA
ENST00000639777.1:n.562_563delinsCA
ENST00000639935.1:n.106-111_106-110delinsCA
ENST00000640030.1:c.9-111_9-110delinsCA	ENSP00000491411.1:n.9-111_9-110delinsCA
ENST00000640067.1:c.69-111_69-110delinsCA	ENSP00000491844.1:n.69-111_69-110delinsCA
ENST00000640423.1:n.78-111_78-110delinsCA
ENST00000640949.1:c.69-111_69-110delinsCA	ENSP00000492500.1:n.69-111_69-110delinsCA
ENST00000378585.5:c.69-111_69-110delinsCA	ENSP00000367848.4:n.69-111_69-110delinsCA
NM_000815.4:c.69-111_69-110delinsCA	NP_000806.2:n.69-111_69-110delinsCA
XM_011541194.1:c.108-111_108-110delinsCA	XP_011539496.1:n.108-111_108-110delinsCA
XM_011541194.3:c.108-111_108-110delinsCA	XP_011539496.1:n.108-111_108-110delinsCA
XM_017000936.1:c.663_664delinsCA	XP_016856425.1:p.Pro221=
NM_000815.5:c.69-111_69-110delinsCA MANE Select	NP_000806.2:n.69-111_69-110delinsCA