Canonical Allele Identifier: CA2758137981

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675245_120675246del , CM000665.2:g.120675245_120675246del	GRCh38
NC_000003.11:g.120394092_120394093del , CM000665.1:g.120394092_120394093del	GRCh37
NC_000003.10:g.121876782_121876783del	NCBI36
NG_011957.1:g.12236_12237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.88-257_88-256del MANE Select	ENSP00000283871.5:n.88-257_88-256del
ENST00000283871.9:c.88-257_88-256del	ENSP00000283871.5:n.88-257_88-256del
ENST00000466528.5:n.114-257_114-256del
ENST00000476082.2:c.53+546_53+547del	ENSP00000419560.2:n.53+546_53+547del
ENST00000480862.1:n.246-257_246-256del
ENST00000485313.5:n.196-257_196-256del
ENST00000488183.5:n.346-257_346-256del
NM_000187.3:c.88-257_88-256del	NP_000178.2:n.88-257_88-256del
XM_005247412.1:c.88-257_88-256del	XP_005247469.1:n.88-257_88-256del
XM_005247413.1:c.88-257_88-256del	XP_005247470.1:n.88-257_88-256del
XM_005247414.3:c.88-257_88-256del	XP_005247471.1:n.88-257_88-256del
XM_011512746.1:c.88-257_88-256del	XP_011511048.1:n.88-257_88-256del
XM_005247412.2:c.88-257_88-256del	XP_005247469.1:n.88-257_88-256del
XM_005247413.2:c.88-257_88-256del	XP_005247470.1:n.88-257_88-256del
XM_005247414.5:c.88-257_88-256del	XP_005247471.1:n.88-257_88-256del
XM_011512746.2:c.88-257_88-256del	XP_011511048.1:n.88-257_88-256del
XM_017006277.2:c.-336-257_-336-256del	XP_016861766.1:n.-336-257_-336-256del
NM_000187.4:c.88-257_88-256del MANE Select	NP_000178.2:n.88-257_88-256del