Canonical Allele Identifier: CA2667172692

Gene: HGD

Linked Data

• gnomAD v4: 3-120670582-G-GCCATTC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670582_120670583insCCATTC , CM000665.2:g.120670582_120670583insCCATTC	GRCh38
NC_000003.11:g.120389429_120389430insCCATTC , CM000665.1:g.120389429_120389430insCCATTC	GRCh37
NC_000003.10:g.121872119_121872120insCCATTC	NCBI36
NG_011957.1:g.16899_16900insGAATGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.177-51_177-50insGAATGG MANE Select	ENSP00000283871.5:n.177-51_177-50insGAATGG
ENST00000283871.9:c.177-51_177-50insGAATGG	ENSP00000283871.5:n.177-51_177-50insGAATGG
ENST00000466528.5:n.203-51_203-50insGAATGG
ENST00000476082.2:c.54-51_54-50insGAATGG	ENSP00000419560.2:n.54-51_54-50insGAATGG
ENST00000485313.5:n.285-51_285-50insGAATGG
ENST00000488183.5:n.435-51_435-50insGAATGG
NM_000187.3:c.177-51_177-50insGAATGG	NP_000178.2:n.177-51_177-50insGAATGG
XM_005247412.1:c.177-51_177-50insGAATGG	XP_005247469.1:n.177-51_177-50insGAATGG
XM_005247413.1:c.177-51_177-50insGAATGG	XP_005247470.1:n.177-51_177-50insGAATGG
XM_005247414.3:c.177-51_177-50insGAATGG	XP_005247471.1:n.177-51_177-50insGAATGG
XM_011512746.1:c.177-51_177-50insGAATGG	XP_011511048.1:n.177-51_177-50insGAATGG
XM_005247412.2:c.177-51_177-50insGAATGG	XP_005247469.1:n.177-51_177-50insGAATGG
XM_005247413.2:c.177-51_177-50insGAATGG	XP_005247470.1:n.177-51_177-50insGAATGG
XM_005247414.5:c.177-51_177-50insGAATGG	XP_005247471.1:n.177-51_177-50insGAATGG
XM_011512746.2:c.177-51_177-50insGAATGG	XP_011511048.1:n.177-51_177-50insGAATGG
XM_017006277.2:c.-247-51_-247-50insGAATGG	XP_016861766.1:n.-247-51_-247-50insGAATGG
NM_000187.4:c.177-51_177-50insGAATGG MANE Select	NP_000178.2:n.177-51_177-50insGAATGG