Canonical Allele Identifier: CA2667173175

Gene: HGD

Linked Data

• gnomAD v4: 3-120675098-A-AAGTAAATTCACAGAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675098_120675099insAGTAAATTCACAGAGT , CM000665.2:g.120675098_120675099insAGTAAATTCACAGAGT	GRCh38
NC_000003.11:g.120393945_120393946insAGTAAATTCACAGAGT , CM000665.1:g.120393945_120393946insAGTAAATTCACAGAGT	GRCh37
NC_000003.10:g.121876635_121876636insAGTAAATTCACAGAGT	NCBI36
NG_011957.1:g.12383_12384insACTCTGTGAATTTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.88-110_88-109insACTCTGTGAATTTACT MANE Select	ENSP00000283871.5:n.88-110_88-109insACTCTGTGAATTTACT
ENST00000283871.9:c.88-110_88-109insACTCTGTGAATTTACT	ENSP00000283871.5:n.88-110_88-109insACTCTGTGAATTTACT
ENST00000466528.5:n.114-110_114-109insACTCTGTGAATTTACT
ENST00000476082.2:c.53+693_53+694insACTCTGTGAATTTACT	ENSP00000419560.2:n.53+693_53+694insACTCTGTGAATTTACT
ENST00000480862.1:n.246-110_246-109insACTCTGTGAATTTACT
ENST00000485313.5:n.196-110_196-109insACTCTGTGAATTTACT
ENST00000488183.5:n.346-110_346-109insACTCTGTGAATTTACT
NM_000187.3:c.88-110_88-109insACTCTGTGAATTTACT	NP_000178.2:n.88-110_88-109insACTCTGTGAATTTACT
XM_005247412.1:c.88-110_88-109insACTCTGTGAATTTACT	XP_005247469.1:n.88-110_88-109insACTCTGTGAATTTACT
XM_005247413.1:c.88-110_88-109insACTCTGTGAATTTACT	XP_005247470.1:n.88-110_88-109insACTCTGTGAATTTACT
XM_005247414.3:c.88-110_88-109insACTCTGTGAATTTACT	XP_005247471.1:n.88-110_88-109insACTCTGTGAATTTACT
XM_011512746.1:c.88-110_88-109insACTCTGTGAATTTACT	XP_011511048.1:n.88-110_88-109insACTCTGTGAATTTACT
XM_005247412.2:c.88-110_88-109insACTCTGTGAATTTACT	XP_005247469.1:n.88-110_88-109insACTCTGTGAATTTACT
XM_005247413.2:c.88-110_88-109insACTCTGTGAATTTACT	XP_005247470.1:n.88-110_88-109insACTCTGTGAATTTACT
XM_005247414.5:c.88-110_88-109insACTCTGTGAATTTACT	XP_005247471.1:n.88-110_88-109insACTCTGTGAATTTACT
XM_011512746.2:c.88-110_88-109insACTCTGTGAATTTACT	XP_011511048.1:n.88-110_88-109insACTCTGTGAATTTACT
XM_017006277.2:c.-336-110_-336-109insACTCTGTGAATTTACT	XP_016861766.1:n.-336-110_-336-109insACTCTGTGAATTTACT
NM_000187.4:c.88-110_88-109insACTCTGTGAATTTACT MANE Select	NP_000178.2:n.88-110_88-109insACTCTGTGAATTTACT