Canonical Allele Identifier: CA1397096664

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646536_120646537delinsAT , CM000665.2:g.120646536_120646537delinsAT	GRCh38
NC_000003.11:g.120365383_120365384delinsAT , CM000665.1:g.120365383_120365384delinsAT	GRCh37
NC_000003.10:g.121848073_121848074delinsAT	NCBI36
NG_011957.1:g.40945_40946delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.550-171_550-170delinsAT MANE Select	ENSP00000283871.5:n.550-171_550-170delinsAT
ENST00000283871.9:c.550-171_550-170delinsAT	ENSP00000283871.5:n.550-171_550-170delinsAT
ENST00000475447.2:c.81-171_81-170delinsAT
ENST00000492108.5:c.180+436_180+437delinsAT	ENSP00000419838.1:n.180+436_180+437delinsAT
NM_000187.3:c.550-171_550-170delinsAT	NP_000178.2:n.550-171_550-170delinsAT
XM_005247412.1:c.549+436_549+437delinsAT	XP_005247469.1:n.549+436_549+437delinsAT
XM_005247413.1:c.550-171_550-170delinsAT	XP_005247470.1:n.550-171_550-170delinsAT
XM_005247414.3:c.550-171_550-170delinsAT	XP_005247471.1:n.550-171_550-170delinsAT
XM_011512746.1:c.550-171_550-170delinsAT	XP_011511048.1:n.550-171_550-170delinsAT
XM_005247412.2:c.549+436_549+437delinsAT	XP_005247469.1:n.549+436_549+437delinsAT
XM_005247413.2:c.550-171_550-170delinsAT	XP_005247470.1:n.550-171_550-170delinsAT
XM_005247414.5:c.550-171_550-170delinsAT	XP_005247471.1:n.550-171_550-170delinsAT
XM_011512746.2:c.550-171_550-170delinsAT	XP_011511048.1:n.550-171_550-170delinsAT
XM_017006277.2:c.127-171_127-170delinsAT	XP_016861766.1:n.127-171_127-170delinsAT
NM_000187.4:c.550-171_550-170delinsAT MANE Select	NP_000178.2:n.550-171_550-170delinsAT