Canonical Allele Identifier: CA2758136656

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646505_120646506insGGTCT , CM000665.2:g.120646505_120646506insGGTCT	GRCh38
NC_000003.11:g.120365352_120365353insGGTCT , CM000665.1:g.120365352_120365353insGGTCT	GRCh37
NC_000003.10:g.121848042_121848043insGGTCT	NCBI36
NG_011957.1:g.40976_40977insAGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.550-140_550-139insAGACC MANE Select	ENSP00000283871.5:n.550-140_550-139insAGACC
ENST00000283871.9:c.550-140_550-139insAGACC	ENSP00000283871.5:n.550-140_550-139insAGACC
ENST00000475447.2:c.81-140_81-139insAGACC
ENST00000492108.5:c.180+467_180+468insAGACC	ENSP00000419838.1:n.180+467_180+468insAGACC
NM_000187.3:c.550-140_550-139insAGACC	NP_000178.2:n.550-140_550-139insAGACC
XM_005247412.1:c.549+467_549+468insAGACC	XP_005247469.1:n.549+467_549+468insAGACC
XM_005247413.1:c.550-140_550-139insAGACC	XP_005247470.1:n.550-140_550-139insAGACC
XM_005247414.3:c.550-140_550-139insAGACC	XP_005247471.1:n.550-140_550-139insAGACC
XM_011512746.1:c.550-140_550-139insAGACC	XP_011511048.1:n.550-140_550-139insAGACC
XM_005247412.2:c.549+467_549+468insAGACC	XP_005247469.1:n.549+467_549+468insAGACC
XM_005247413.2:c.550-140_550-139insAGACC	XP_005247470.1:n.550-140_550-139insAGACC
XM_005247414.5:c.550-140_550-139insAGACC	XP_005247471.1:n.550-140_550-139insAGACC
XM_011512746.2:c.550-140_550-139insAGACC	XP_011511048.1:n.550-140_550-139insAGACC
XM_017006277.2:c.127-140_127-139insAGACC	XP_016861766.1:n.127-140_127-139insAGACC
NM_000187.4:c.550-140_550-139insAGACC MANE Select	NP_000178.2:n.550-140_550-139insAGACC