Canonical Allele Identifier: CA2667171095

Gene: HGD

Linked Data

• gnomAD v4: 3-120638662-A-AAT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638662_120638663insAT , CM000665.2:g.120638662_120638663insAT	GRCh38
NC_000003.11:g.120357509_120357510insAT , CM000665.1:g.120357509_120357510insAT	GRCh37
NC_000003.10:g.121840199_121840200insAT	NCBI36
NG_011957.1:g.48819_48820insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.880-82_880-81insAT MANE Select	ENSP00000283871.5:n.880-82_880-81insAT
ENST00000283871.9:c.880-82_880-81insAT	ENSP00000283871.5:n.880-82_880-81insAT
ENST00000470321.1:n.220-82_220-81insAT
ENST00000475447.2:c.307+2926_307+2927insAT
ENST00000492108.5:c.285+2926_285+2927insAT	ENSP00000419838.1:n.285+2926_285+2927insAT
ENST00000494453.1:c.300-82_300-81insAT
NM_000187.3:c.880-82_880-81insAT	NP_000178.2:n.880-82_880-81insAT
XM_005247412.1:c.655-82_655-81insAT	XP_005247469.1:n.655-82_655-81insAT
XM_005247413.1:c.880-82_880-81insAT	XP_005247470.1:n.880-82_880-81insAT
XM_011512746.1:c.879+2926_879+2927insAT	XP_011511048.1:n.879+2926_879+2927insAT
XM_005247412.2:c.655-82_655-81insAT	XP_005247469.1:n.655-82_655-81insAT
XM_005247413.2:c.880-82_880-81insAT	XP_005247470.1:n.880-82_880-81insAT
XM_011512746.2:c.879+2926_879+2927insAT	XP_011511048.1:n.879+2926_879+2927insAT
XM_017006277.2:c.457-82_457-81insAT	XP_016861766.1:n.457-82_457-81insAT
NM_000187.4:c.880-82_880-81insAT MANE Select	NP_000178.2:n.880-82_880-81insAT