Canonical Allele Identifier: CA1397109378

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675115_120675116delinsAT , CM000665.2:g.120675115_120675116delinsAT	GRCh38
NC_000003.11:g.120393962_120393963delinsAT , CM000665.1:g.120393962_120393963delinsAT	GRCh37
NC_000003.10:g.121876652_121876653delinsAT	NCBI36
NG_011957.1:g.12366_12367delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.88-127_88-126delinsAT MANE Select	ENSP00000283871.5:n.88-127_88-126delinsAT
ENST00000283871.9:c.88-127_88-126delinsAT	ENSP00000283871.5:n.88-127_88-126delinsAT
ENST00000466528.5:n.114-127_114-126delinsAT
ENST00000476082.2:c.53+676_53+677delinsAT	ENSP00000419560.2:n.53+676_53+677delinsAT
ENST00000480862.1:n.246-127_246-126delinsAT
ENST00000485313.5:n.196-127_196-126delinsAT
ENST00000488183.5:n.346-127_346-126delinsAT
NM_000187.3:c.88-127_88-126delinsAT	NP_000178.2:n.88-127_88-126delinsAT
XM_005247412.1:c.88-127_88-126delinsAT	XP_005247469.1:n.88-127_88-126delinsAT
XM_005247413.1:c.88-127_88-126delinsAT	XP_005247470.1:n.88-127_88-126delinsAT
XM_005247414.3:c.88-127_88-126delinsAT	XP_005247471.1:n.88-127_88-126delinsAT
XM_011512746.1:c.88-127_88-126delinsAT	XP_011511048.1:n.88-127_88-126delinsAT
XM_005247412.2:c.88-127_88-126delinsAT	XP_005247469.1:n.88-127_88-126delinsAT
XM_005247413.2:c.88-127_88-126delinsAT	XP_005247470.1:n.88-127_88-126delinsAT
XM_005247414.5:c.88-127_88-126delinsAT	XP_005247471.1:n.88-127_88-126delinsAT
XM_011512746.2:c.88-127_88-126delinsAT	XP_011511048.1:n.88-127_88-126delinsAT
XM_017006277.2:c.-336-127_-336-126delinsAT	XP_016861766.1:n.-336-127_-336-126delinsAT
NM_000187.4:c.88-127_88-126delinsAT MANE Select	NP_000178.2:n.88-127_88-126delinsAT