Canonical Allele Identifier: CA1052822163

Gene: HGD

Linked Data

• dbSNP Id: rs1941141728

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120645894_120645895del , CM000665.2:g.120645894_120645895del	GRCh38
NC_000003.11:g.120364741_120364742del , CM000665.1:g.120364741_120364742del	GRCh37
NC_000003.10:g.121847431_121847432del	NCBI36
NG_011957.1:g.41590_41591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.649+375_649+376del MANE Select	ENSP00000283871.5:n.649+375_649+376del
ENST00000283871.9:c.649+375_649+376del	ENSP00000283871.5:n.649+375_649+376del
ENST00000475447.2:c.180+375_180+376del
ENST00000492108.5:c.180+1081_180+1082del	ENSP00000419838.1:n.180+1081_180+1082del
ENST00000494453.1:c.69+375_69+376del
NM_000187.3:c.649+375_649+376del	NP_000178.2:n.649+375_649+376del
XM_005247412.1:c.549+1081_549+1082del	XP_005247469.1:n.549+1081_549+1082del
XM_005247413.1:c.649+375_649+376del	XP_005247470.1:n.649+375_649+376del
XM_005247414.3:c.649+375_649+376del	XP_005247471.1:n.649+375_649+376del
XM_011512746.1:c.649+375_649+376del	XP_011511048.1:n.649+375_649+376del
XM_005247412.2:c.549+1081_549+1082del	XP_005247469.1:n.549+1081_549+1082del
XM_005247413.2:c.649+375_649+376del	XP_005247470.1:n.649+375_649+376del
XM_005247414.5:c.649+375_649+376del	XP_005247471.1:n.649+375_649+376del
XM_011512746.2:c.649+375_649+376del	XP_011511048.1:n.649+375_649+376del
XM_017006277.2:c.226+375_226+376del	XP_016861766.1:n.226+375_226+376del
NM_000187.4:c.649+375_649+376del MANE Select	NP_000178.2:n.649+375_649+376del