Canonical Allele Identifier: CA2577865370

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675074_120675079del , CM000665.2:g.120675074_120675079del	GRCh38
NC_000003.11:g.120393921_120393926del , CM000665.1:g.120393921_120393926del	GRCh37
NC_000003.10:g.121876611_121876616del	NCBI36
NG_011957.1:g.12403_12408del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.88-90_88-85del MANE Select	ENSP00000283871.5:n.88-90_88-85del
ENST00000283871.9:c.88-90_88-85del	ENSP00000283871.5:n.88-90_88-85del
ENST00000466528.5:n.114-90_114-85del
ENST00000476082.2:c.53+713_53+718del	ENSP00000419560.2:n.53+713_53+718del
ENST00000480862.1:n.246-90_246-85del
ENST00000485313.5:n.196-90_196-85del
ENST00000488183.5:n.346-90_346-85del
NM_000187.3:c.88-90_88-85del	NP_000178.2:n.88-90_88-85del
XM_005247412.1:c.88-90_88-85del	XP_005247469.1:n.88-90_88-85del
XM_005247413.1:c.88-90_88-85del	XP_005247470.1:n.88-90_88-85del
XM_005247414.3:c.88-90_88-85del	XP_005247471.1:n.88-90_88-85del
XM_011512746.1:c.88-90_88-85del	XP_011511048.1:n.88-90_88-85del
XM_005247412.2:c.88-90_88-85del	XP_005247469.1:n.88-90_88-85del
XM_005247413.2:c.88-90_88-85del	XP_005247470.1:n.88-90_88-85del
XM_005247414.5:c.88-90_88-85del	XP_005247471.1:n.88-90_88-85del
XM_011512746.2:c.88-90_88-85del	XP_011511048.1:n.88-90_88-85del
XM_017006277.2:c.-336-90_-336-85del	XP_016861766.1:n.-336-90_-336-85del
NM_000187.4:c.88-90_88-85del MANE Select	NP_000178.2:n.88-90_88-85del