Canonical Allele Identifier: CA1397109456

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675272_120675273delinsTC , CM000665.2:g.120675272_120675273delinsTC	GRCh38
NC_000003.11:g.120394119_120394120delinsTC , CM000665.1:g.120394119_120394120delinsTC	GRCh37
NC_000003.10:g.121876809_121876810delinsTC	NCBI36
NG_011957.1:g.12209_12210delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.88-284_88-283delinsGA MANE Select	ENSP00000283871.5:n.88-284_88-283delinsGA
ENST00000283871.9:c.88-284_88-283delinsGA	ENSP00000283871.5:n.88-284_88-283delinsGA
ENST00000466528.5:n.114-284_114-283delinsGA
ENST00000476082.2:c.53+519_53+520delinsGA	ENSP00000419560.2:n.53+519_53+520delinsGA
ENST00000480862.1:n.246-284_246-283delinsGA
ENST00000485313.5:n.196-284_196-283delinsGA
ENST00000488183.5:n.346-284_346-283delinsGA
NM_000187.3:c.88-284_88-283delinsGA	NP_000178.2:n.88-284_88-283delinsGA
XM_005247412.1:c.88-284_88-283delinsGA	XP_005247469.1:n.88-284_88-283delinsGA
XM_005247413.1:c.88-284_88-283delinsGA	XP_005247470.1:n.88-284_88-283delinsGA
XM_005247414.3:c.88-284_88-283delinsGA	XP_005247471.1:n.88-284_88-283delinsGA
XM_011512746.1:c.88-284_88-283delinsGA	XP_011511048.1:n.88-284_88-283delinsGA
XM_005247412.2:c.88-284_88-283delinsGA	XP_005247469.1:n.88-284_88-283delinsGA
XM_005247413.2:c.88-284_88-283delinsGA	XP_005247470.1:n.88-284_88-283delinsGA
XM_005247414.5:c.88-284_88-283delinsGA	XP_005247471.1:n.88-284_88-283delinsGA
XM_011512746.2:c.88-284_88-283delinsGA	XP_011511048.1:n.88-284_88-283delinsGA
XM_017006277.2:c.-336-284_-336-283delinsGA	XP_016861766.1:n.-336-284_-336-283delinsGA
NM_000187.4:c.88-284_88-283delinsGA MANE Select	NP_000178.2:n.88-284_88-283delinsGA