Canonical Allele Identifier: CA1397098631

Gene: HGD

Linked Data

• dbSNP Id: rs1941324754

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650954del , CM000665.2:g.120650954del	GRCh38
NC_000003.11:g.120369801del , CM000665.1:g.120369801del	GRCh37
NC_000003.10:g.121852491del	NCBI36
NG_011957.1:g.36528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.343-89del MANE Select	ENSP00000283871.5:n.343-89del
ENST00000283871.9:c.343-89del	ENSP00000283871.5:n.343-89del
ENST00000476082.2:c.220-89del	ENSP00000419560.2:n.220-89del
ENST00000485313.5:n.451-89del
NM_000187.3:c.343-89del	NP_000178.2:n.343-89del
XM_005247412.1:c.343-89del	XP_005247469.1:n.343-89del
XM_005247413.1:c.343-89del	XP_005247470.1:n.343-89del
XM_005247414.3:c.343-89del	XP_005247471.1:n.343-89del
XM_011512746.1:c.343-89del	XP_011511048.1:n.343-89del
XM_005247412.2:c.343-89del	XP_005247469.1:n.343-89del
XM_005247413.2:c.343-89del	XP_005247470.1:n.343-89del
XM_005247414.5:c.343-89del	XP_005247471.1:n.343-89del
XM_011512746.2:c.343-89del	XP_011511048.1:n.343-89del
XM_017006277.2:c.-81-89del	XP_016861766.1:n.-81-89del
NM_000187.4:c.343-89del MANE Select	NP_000178.2:n.343-89del