Canonical Allele Identifier: CA2667172654

Gene: HGD

Linked Data

• gnomAD v4: 3-120670474-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670476del , CM000665.2:g.120670476del	GRCh38
NC_000003.11:g.120389323del , CM000665.1:g.120389323del	GRCh37
NC_000003.10:g.121872013del	NCBI36
NG_011957.1:g.17007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.234del MANE Select	ENSP00000283871.5:p.Gly79AlafsTer?
ENST00000283871.9:c.234del	ENSP00000283871.5:p.Gly79AlafsTer?
ENST00000466528.5:n.260del
ENST00000476082.2:c.111del	ENSP00000419560.2:p.Gly38AlafsTer?
ENST00000485313.5:n.342del
ENST00000488183.5:n.492del
NM_000187.3:c.234del	NP_000178.2:p.Gly79AlafsTer?
XM_005247412.1:c.234del	XP_005247469.1:p.Gly79AlafsTer?
XM_005247413.1:c.234del	XP_005247470.1:p.Gly79AlafsTer?
XM_005247414.3:c.234del	XP_005247471.1:p.Gly79AlafsTer?
XM_011512746.1:c.234del	XP_011511048.1:p.Gly79AlafsTer?
XM_005247412.2:c.234del	XP_005247469.1:p.Gly79AlafsTer?
XM_005247413.2:c.234del	XP_005247470.1:p.Gly79AlafsTer?
XM_005247414.5:c.234del	XP_005247471.1:p.Gly79AlafsTer?
XM_011512746.2:c.234del	XP_011511048.1:p.Gly79AlafsTer?
XM_017006277.2:c.-190del	XP_016861766.1:n.-190del
NM_000187.4:c.234del MANE Select	NP_000178.2:p.Gly79AlafsTer?