This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA2994118357
Gene: HMCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186122793_186122948del , CM000663.2:g.186122793_186122948del GRCh38
NC_000001.10:g.186091925_186092080del , CM000663.1:g.186091925_186092080del GRCh37
NC_000001.9:g.184358548_184358703del NCBI36
NG_011841.1:g.393243_393398del

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.12230-158_12230-3del MANE Select ENSP00000271588.4:n.12230-158_12230-3del
ENST00000271588.8:c.12230-158_12230-3del ENSP00000271588.4:n.12230-158_12230-3del
NM_031935.2:c.12230-158_12230-3del NP_114141.2:n.12230-158_12230-3del
XM_011510037.1:c.11945-158_11945-3del XP_011508339.1:n.11945-158_11945-3del
XM_011510038.1:c.12230-158_12230-3del XP_011508340.1:n.12230-158_12230-3del
XM_011510039.1:c.12230-158_12230-3del XP_011508341.1:n.12230-158_12230-3del
XM_011510038.3:c.12230-158_12230-3del XP_011508340.1:n.12230-158_12230-3del
XM_017002437.1:c.10253-158_10253-3del XP_016857926.1:n.10253-158_10253-3del
NM_031935.3:c.12230-158_12230-3del MANE Select NP_114141.2:n.12230-158_12230-3del