Canonical Allele Identifier: CA2667173073

Gene: HGD

Linked Data

• gnomAD v4: 3-120674855-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674857_120674858del , CM000665.2:g.120674857_120674858del	GRCh38
NC_000003.11:g.120393704_120393705del , CM000665.1:g.120393704_120393705del	GRCh37
NC_000003.10:g.121876394_121876395del	NCBI36
NG_011957.1:g.12625_12626del

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.176+44_176+45del MANE Select	ENSP00000283871.5:n.176+44_176+45del
ENST00000283871.9:c.176+44_176+45del	ENSP00000283871.5:n.176+44_176+45del
ENST00000466528.5:n.202+44_202+45del
ENST00000476082.2:c.53+935_53+936del	ENSP00000419560.2:n.53+935_53+936del
ENST00000480862.1:n.378_379del
ENST00000485313.5:n.284+44_284+45del
ENST00000488183.5:n.434+44_434+45del
NM_000187.3:c.176+44_176+45del	NP_000178.2:n.176+44_176+45del
XM_005247412.1:c.176+44_176+45del	XP_005247469.1:n.176+44_176+45del
XM_005247413.1:c.176+44_176+45del	XP_005247470.1:n.176+44_176+45del
XM_005247414.3:c.176+44_176+45del	XP_005247471.1:n.176+44_176+45del
XM_011512746.1:c.176+44_176+45del	XP_011511048.1:n.176+44_176+45del
XM_005247412.2:c.176+44_176+45del	XP_005247469.1:n.176+44_176+45del
XM_005247413.2:c.176+44_176+45del	XP_005247470.1:n.176+44_176+45del
XM_005247414.5:c.176+44_176+45del	XP_005247471.1:n.176+44_176+45del
XM_011512746.2:c.176+44_176+45del	XP_011511048.1:n.176+44_176+45del
XM_017006277.2:c.-248+44_-248+45del	XP_016861766.1:n.-248+44_-248+45del
NM_000187.4:c.176+44_176+45del MANE Select	NP_000178.2:n.176+44_176+45del