Canonical Allele Identifier: CA2667172702

Gene: HGD

Linked Data

• gnomAD v4: 3-120670594-A-ACAT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670594_120670595insCAT , CM000665.2:g.120670594_120670595insCAT	GRCh38
NC_000003.11:g.120389441_120389442insCAT , CM000665.1:g.120389441_120389442insCAT	GRCh37
NC_000003.10:g.121872131_121872132insCAT	NCBI36
NG_011957.1:g.16887_16888insATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.177-63_177-62insATG MANE Select	ENSP00000283871.5:n.177-63_177-62insATG
ENST00000283871.9:c.177-63_177-62insATG	ENSP00000283871.5:n.177-63_177-62insATG
ENST00000466528.5:n.203-63_203-62insATG
ENST00000476082.2:c.54-63_54-62insATG	ENSP00000419560.2:n.54-63_54-62insATG
ENST00000485313.5:n.285-63_285-62insATG
ENST00000488183.5:n.435-63_435-62insATG
NM_000187.3:c.177-63_177-62insATG	NP_000178.2:n.177-63_177-62insATG
XM_005247412.1:c.177-63_177-62insATG	XP_005247469.1:n.177-63_177-62insATG
XM_005247413.1:c.177-63_177-62insATG	XP_005247470.1:n.177-63_177-62insATG
XM_005247414.3:c.177-63_177-62insATG	XP_005247471.1:n.177-63_177-62insATG
XM_011512746.1:c.177-63_177-62insATG	XP_011511048.1:n.177-63_177-62insATG
XM_005247412.2:c.177-63_177-62insATG	XP_005247469.1:n.177-63_177-62insATG
XM_005247413.2:c.177-63_177-62insATG	XP_005247470.1:n.177-63_177-62insATG
XM_005247414.5:c.177-63_177-62insATG	XP_005247471.1:n.177-63_177-62insATG
XM_011512746.2:c.177-63_177-62insATG	XP_011511048.1:n.177-63_177-62insATG
XM_017006277.2:c.-247-63_-247-62insATG	XP_016861766.1:n.-247-63_-247-62insATG
NM_000187.4:c.177-63_177-62insATG MANE Select	NP_000178.2:n.177-63_177-62insATG