Canonical Allele Identifier: CA2667172696

Gene: HGD

Linked Data

• gnomAD v4: 3-120670586-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670586_120670587insC , CM000665.2:g.120670586_120670587insC	GRCh38
NC_000003.11:g.120389433_120389434insC , CM000665.1:g.120389433_120389434insC	GRCh37
NC_000003.10:g.121872123_121872124insC	NCBI36
NG_011957.1:g.16895_16896insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.177-55_177-54insG MANE Select	ENSP00000283871.5:n.177-55_177-54insG
ENST00000283871.9:c.177-55_177-54insG	ENSP00000283871.5:n.177-55_177-54insG
ENST00000466528.5:n.203-55_203-54insG
ENST00000476082.2:c.54-55_54-54insG	ENSP00000419560.2:n.54-55_54-54insG
ENST00000485313.5:n.285-55_285-54insG
ENST00000488183.5:n.435-55_435-54insG
NM_000187.3:c.177-55_177-54insG	NP_000178.2:n.177-55_177-54insG
XM_005247412.1:c.177-55_177-54insG	XP_005247469.1:n.177-55_177-54insG
XM_005247413.1:c.177-55_177-54insG	XP_005247470.1:n.177-55_177-54insG
XM_005247414.3:c.177-55_177-54insG	XP_005247471.1:n.177-55_177-54insG
XM_011512746.1:c.177-55_177-54insG	XP_011511048.1:n.177-55_177-54insG
XM_005247412.2:c.177-55_177-54insG	XP_005247469.1:n.177-55_177-54insG
XM_005247413.2:c.177-55_177-54insG	XP_005247470.1:n.177-55_177-54insG
XM_005247414.5:c.177-55_177-54insG	XP_005247471.1:n.177-55_177-54insG
XM_011512746.2:c.177-55_177-54insG	XP_011511048.1:n.177-55_177-54insG
XM_017006277.2:c.-247-55_-247-54insG	XP_016861766.1:n.-247-55_-247-54insG
NM_000187.4:c.177-55_177-54insG MANE Select	NP_000178.2:n.177-55_177-54insG