Canonical Allele Identifier: CA2667172745

Gene: HGD

Linked Data

• gnomAD v4: 3-120670643-T-TGAATTG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670643_120670644insGAATTG , CM000665.2:g.120670643_120670644insGAATTG	GRCh38
NC_000003.11:g.120389490_120389491insGAATTG , CM000665.1:g.120389490_120389491insGAATTG	GRCh37
NC_000003.10:g.121872180_121872181insGAATTG	NCBI36
NG_011957.1:g.16838_16839insCAATTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.177-112_177-111insCAATTC MANE Select	ENSP00000283871.5:n.177-112_177-111insCAATTC
ENST00000283871.9:c.177-112_177-111insCAATTC	ENSP00000283871.5:n.177-112_177-111insCAATTC
ENST00000466528.5:n.203-112_203-111insCAATTC
ENST00000476082.2:c.54-112_54-111insCAATTC	ENSP00000419560.2:n.54-112_54-111insCAATTC
ENST00000485313.5:n.285-112_285-111insCAATTC
ENST00000488183.5:n.435-112_435-111insCAATTC
NM_000187.3:c.177-112_177-111insCAATTC	NP_000178.2:n.177-112_177-111insCAATTC
XM_005247412.1:c.177-112_177-111insCAATTC	XP_005247469.1:n.177-112_177-111insCAATTC
XM_005247413.1:c.177-112_177-111insCAATTC	XP_005247470.1:n.177-112_177-111insCAATTC
XM_005247414.3:c.177-112_177-111insCAATTC	XP_005247471.1:n.177-112_177-111insCAATTC
XM_011512746.1:c.177-112_177-111insCAATTC	XP_011511048.1:n.177-112_177-111insCAATTC
XM_005247412.2:c.177-112_177-111insCAATTC	XP_005247469.1:n.177-112_177-111insCAATTC
XM_005247413.2:c.177-112_177-111insCAATTC	XP_005247470.1:n.177-112_177-111insCAATTC
XM_005247414.5:c.177-112_177-111insCAATTC	XP_005247471.1:n.177-112_177-111insCAATTC
XM_011512746.2:c.177-112_177-111insCAATTC	XP_011511048.1:n.177-112_177-111insCAATTC
XM_017006277.2:c.-247-112_-247-111insCAATTC	XP_016861766.1:n.-247-112_-247-111insCAATTC
NM_000187.4:c.177-112_177-111insCAATTC MANE Select	NP_000178.2:n.177-112_177-111insCAATTC