Canonical Allele Identifier: CA1397090705
Gene: HGD HGNC NCBI

Linked Data

dbSNP Id: rs1940644186
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633173_120633176del , CM000665.2:g.120633173_120633176del GRCh38
NC_000003.11:g.120352020_120352023del , CM000665.1:g.120352020_120352023del GRCh37
NC_000003.10:g.121834710_121834713del NCBI36
NG_011957.1:g.54306_54309del

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1159_1162del MANE Select ENSP00000283871.5:p.Ala387LeufsTer17
ENST00000283871.9:c.1159_1162del ENSP00000283871.5:p.Ala387LeufsTer17
ENST00000470321.1:n.499_502del
ENST00000492108.5:c.438_441del ENSP00000419838.1:n.438_441del
NM_000187.3:c.1159_1162del NP_000178.2:p.Ala387LeufsTer17
XM_005247412.1:c.934_937del XP_005247469.1:p.Ala312LeufsTer17
XM_005247412.2:c.934_937del XP_005247469.1:p.Ala312LeufsTer17
XM_017006277.2:c.736_739del XP_016861766.1:p.Ala246LeufsTer17
NM_000187.4:c.1159_1162del MANE Select NP_000178.2:p.Ala387LeufsTer17
Search 100 bp 5'
Search 100 bp 3'