Canonical Allele Identifier: CA1397098608

Gene: HGD

Linked Data

• dbSNP Id: rs1941322978

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650901_120650915del , CM000665.2:g.120650901_120650915del	GRCh38
NC_000003.11:g.120369748_120369762del , CM000665.1:g.120369748_120369762del	GRCh37
NC_000003.10:g.121852438_121852452del	NCBI36
NG_011957.1:g.36568_36582del

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.343-49_343-35del MANE Select	ENSP00000283871.5:n.343-49_343-35del
ENST00000283871.9:c.343-49_343-35del	ENSP00000283871.5:n.343-49_343-35del
ENST00000476082.2:c.220-49_220-35del	ENSP00000419560.2:n.220-49_220-35del
ENST00000485313.5:n.451-49_451-35del
NM_000187.3:c.343-49_343-35del	NP_000178.2:n.343-49_343-35del
XM_005247412.1:c.343-49_343-35del	XP_005247469.1:n.343-49_343-35del
XM_005247413.1:c.343-49_343-35del	XP_005247470.1:n.343-49_343-35del
XM_005247414.3:c.343-49_343-35del	XP_005247471.1:n.343-49_343-35del
XM_011512746.1:c.343-49_343-35del	XP_011511048.1:n.343-49_343-35del
XM_005247412.2:c.343-49_343-35del	XP_005247469.1:n.343-49_343-35del
XM_005247413.2:c.343-49_343-35del	XP_005247470.1:n.343-49_343-35del
XM_005247414.5:c.343-49_343-35del	XP_005247471.1:n.343-49_343-35del
XM_011512746.2:c.343-49_343-35del	XP_011511048.1:n.343-49_343-35del
XM_017006277.2:c.-81-49_-81-35del	XP_016861766.1:n.-81-49_-81-35del
NM_000187.4:c.343-49_343-35del MANE Select	NP_000178.2:n.343-49_343-35del