Canonical Allele Identifier: CA2574176639

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025051_2025052del , CM000663.2:g.2025051_2025052del	GRCh38
NC_000001.10:g.1956490_1956491del , CM000663.1:g.1956490_1956491del	GRCh37
NC_000001.9:g.1946350_1946351del	NCBI36
NG_008168.1:g.10723_10724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.178_179del MANE Select	ENSP00000367848.4:p.Gly60ArgfsTer?
ENST00000638411.1:c.178_179del	ENSP00000491632.1:p.Gly60ArgfsTer?
ENST00000638604.1:n.242_243del
ENST00000638771.1:c.178_179del	ENSP00000492435.1:p.Gly60ArgfsTer?
ENST00000639045.1:c.*164_*165del	ENSP00000491997.1:n.*164_*165del
ENST00000639777.1:n.782_783del
ENST00000639935.1:n.215_216del
ENST00000640030.1:c.118_119del	ENSP00000491411.1:p.Gly40ArgfsTer?
ENST00000640067.1:c.178_179del	ENSP00000491844.1:p.Gly60ArgfsTer?
ENST00000640423.1:n.187_188del
ENST00000640949.1:c.178_179del	ENSP00000492500.1:p.Gly60ArgfsTer?
ENST00000378585.5:c.178_179del	ENSP00000367848.4:p.Gly60ArgfsTer?
NM_000815.4:c.178_179del	NP_000806.2:p.Gly60ArgfsTer?
XM_011541194.1:c.217_218del	XP_011539496.1:p.Gly73ArgfsTer?
XM_011541194.3:c.217_218del	XP_011539496.1:p.Gly73ArgfsTer?
XM_017000936.1:c.883_884del	XP_016856425.1:p.Gly295ArgfsTer?
NM_000815.5:c.178_179del MANE Select	NP_000806.2:p.Gly60ArgfsTer?