Canonical Allele Identifier: CA2577865361
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120675029del , CM000665.2:g.120675029del GRCh38
NC_000003.11:g.120393876del , CM000665.1:g.120393876del GRCh37
NC_000003.10:g.121876566del NCBI36
NG_011957.1:g.12453del

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.88-40del MANE Select ENSP00000283871.5:n.88-40del
ENST00000283871.9:c.88-40del ENSP00000283871.5:n.88-40del
ENST00000466528.5:n.114-40del
ENST00000476082.2:c.53+763del ENSP00000419560.2:n.53+763del
ENST00000480862.1:n.246-40del
ENST00000485313.5:n.196-40del
ENST00000488183.5:n.346-40del
NM_000187.3:c.88-40del NP_000178.2:n.88-40del
XM_005247412.1:c.88-40del XP_005247469.1:n.88-40del
XM_005247413.1:c.88-40del XP_005247470.1:n.88-40del
XM_005247414.3:c.88-40del XP_005247471.1:n.88-40del
XM_011512746.1:c.88-40del XP_011511048.1:n.88-40del
XM_005247412.2:c.88-40del XP_005247469.1:n.88-40del
XM_005247413.2:c.88-40del XP_005247470.1:n.88-40del
XM_005247414.5:c.88-40del XP_005247471.1:n.88-40del
XM_011512746.2:c.88-40del XP_011511048.1:n.88-40del
XM_017006277.2:c.-336-40del XP_016861766.1:n.-336-40del
NM_000187.4:c.88-40del MANE Select NP_000178.2:n.88-40del