Canonical Allele Identifier: CA2758136658

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646506_120646507insTGGTGTC , CM000665.2:g.120646506_120646507insTGGTGTC	GRCh38
NC_000003.11:g.120365353_120365354insTGGTGTC , CM000665.1:g.120365353_120365354insTGGTGTC	GRCh37
NC_000003.10:g.121848043_121848044insTGGTGTC	NCBI36
NG_011957.1:g.40975_40976insGACACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.550-141_550-140insGACACCA MANE Select	ENSP00000283871.5:n.550-141_550-140insGACACCA
ENST00000283871.9:c.550-141_550-140insGACACCA	ENSP00000283871.5:n.550-141_550-140insGACACCA
ENST00000475447.2:c.81-141_81-140insGACACCA
ENST00000492108.5:c.180+466_180+467insGACACCA	ENSP00000419838.1:n.180+466_180+467insGACACCA
NM_000187.3:c.550-141_550-140insGACACCA	NP_000178.2:n.550-141_550-140insGACACCA
XM_005247412.1:c.549+466_549+467insGACACCA	XP_005247469.1:n.549+466_549+467insGACACCA
XM_005247413.1:c.550-141_550-140insGACACCA	XP_005247470.1:n.550-141_550-140insGACACCA
XM_005247414.3:c.550-141_550-140insGACACCA	XP_005247471.1:n.550-141_550-140insGACACCA
XM_011512746.1:c.550-141_550-140insGACACCA	XP_011511048.1:n.550-141_550-140insGACACCA
XM_005247412.2:c.549+466_549+467insGACACCA	XP_005247469.1:n.549+466_549+467insGACACCA
XM_005247413.2:c.550-141_550-140insGACACCA	XP_005247470.1:n.550-141_550-140insGACACCA
XM_005247414.5:c.550-141_550-140insGACACCA	XP_005247471.1:n.550-141_550-140insGACACCA
XM_011512746.2:c.550-141_550-140insGACACCA	XP_011511048.1:n.550-141_550-140insGACACCA
XM_017006277.2:c.127-141_127-140insGACACCA	XP_016861766.1:n.127-141_127-140insGACACCA
NM_000187.4:c.550-141_550-140insGACACCA MANE Select	NP_000178.2:n.550-141_550-140insGACACCA