Canonical Allele Identifier: CA33497008
Gene: HMCN1 HGNC NCBI

Linked Data

dbSNP Id: rs35246797

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186166812del , CM000663.2:g.186166812del GRCh38
NC_000001.10:g.186135944del , CM000663.1:g.186135944del GRCh37
NC_000001.9:g.184402567del NCBI36
NG_011841.1:g.437262del

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15444del MANE Select ENSP00000271588.4:p.Ile5148MetfsTer?
ENST00000271588.8:c.15444del ENSP00000271588.4:p.Ile5148MetfsTer?
ENST00000475585.1:n.163-4525del
NM_031935.2:c.15444del NP_114141.2:p.Ile5148MetfsTer?
XM_011510037.1:c.15159del XP_011508339.1:p.Ile5053MetfsTer?
XM_011510038.1:c.15444del XP_011508340.1:p.Ile5148MetfsTer?
XM_011510038.3:c.15444del XP_011508340.1:p.Ile5148MetfsTer?
XM_017002437.1:c.13467del XP_016857926.1:p.Ile4489MetfsTer?
NM_031935.3:c.15444del MANE Select NP_114141.2:p.Ile5148MetfsTer?