Canonical Allele Identifier: CA2649556964
Gene: HMCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186095396_186095398del , CM000663.2:g.186095396_186095398del GRCh38
NC_000001.10:g.186064528_186064530del , CM000663.1:g.186064528_186064530del GRCh37
NC_000001.9:g.184331151_184331153del NCBI36
NG_011841.1:g.365846_365848del

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.10448_10450del MANE Select ENSP00000271588.4:p.Thr3483_Val3484delinsIle
ENST00000271588.8:c.10448_10450del ENSP00000271588.4:p.Thr3483_Val3484delinsIle
NM_031935.2:c.10448_10450del NP_114141.2:p.Thr3483_Val3484delinsIle
XM_011510037.1:c.10163_10165del XP_011508339.1:p.Thr3388_Val3389delinsIle
XM_011510038.1:c.10448_10450del XP_011508340.1:p.Thr3483_Val3484delinsIle
XM_011510039.1:c.10448_10450del XP_011508341.1:p.Thr3483_Val3484delinsIle
XM_011510038.3:c.10448_10450del XP_011508340.1:p.Thr3483_Val3484delinsIle
XM_017002437.1:c.8471_8473del XP_016857926.1:p.Thr2824_Val2825delinsIle
XM_024450118.1:c.*96_*98del XP_024305886.1:n.*96_*98del
NM_031935.3:c.10448_10450del MANE Select NP_114141.2:p.Thr3483_Val3484delinsIle