Canonical Allele Identifier: CA2840507472
Gene: HMCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186015389_186015391del , CM000663.2:g.186015389_186015391del GRCh38
NC_000001.10:g.185984521_185984523del , CM000663.1:g.185984521_185984523del GRCh37
NC_000001.9:g.184251144_184251146del NCBI36
NG_011841.1:g.285839_285841del

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.4861_4863del MANE Select ENSP00000271588.4:p.Ala1621del
ENST00000271588.8:c.4861_4863del ENSP00000271588.4:p.Ala1621del
NM_031935.2:c.4861_4863del NP_114141.2:p.Ala1621del
XM_011510037.1:c.4861_4863del XP_011508339.1:p.Ala1621del
XM_011510038.1:c.4861_4863del XP_011508340.1:p.Ala1621del
XM_011510039.1:c.4861_4863del XP_011508341.1:p.Ala1621del
XM_011510040.1:c.4861_4863del XP_011508342.1:p.Ala1621del
XM_011510041.1:c.4861_4863del XP_011508343.1:p.Ala1621del
XM_011510038.3:c.4861_4863del XP_011508340.1:p.Ala1621del
XM_011510041.3:c.4861_4863del XP_011508343.1:p.Ala1621del
XM_017002437.1:c.2884_2886del XP_016857926.1:p.Ala962del
XM_024450118.1:c.4861_4863del XP_024305886.1:p.Ala1621del
NM_031935.3:c.4861_4863del MANE Select NP_114141.2:p.Ala1621del