Canonical Allele Identifier: CA2746978753

Gene: HMCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186039730_186039737dup , CM000663.2:g.186039730_186039737dup	GRCh38
NC_000001.10:g.186008862_186008869dup , CM000663.1:g.186008862_186008869dup	GRCh37
NC_000001.9:g.184275485_184275492dup	NCBI36
NG_011841.1:g.310180_310187dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.6031_6038dup MANE Select	ENSP00000271588.4:p.Ile2014ProfsTer19
ENST00000271588.8:c.6031_6038dup	ENSP00000271588.4:p.Ile2014ProfsTer19
NM_031935.2:c.6031_6038dup	NP_114141.2:p.Ile2014ProfsTer19
XM_011510037.1:c.6031_6038dup	XP_011508339.1:p.Ile2014ProfsTer19
XM_011510038.1:c.6031_6038dup	XP_011508340.1:p.Ile2014ProfsTer19
XM_011510039.1:c.6031_6038dup	XP_011508341.1:p.Ile2014ProfsTer19
XM_011510040.1:c.6031_6038dup	XP_011508342.1:p.Ile2014ProfsTer19
XM_011510041.1:c.6031_6038dup	XP_011508343.1:p.Ile2014ProfsTer19
XM_011510038.3:c.6031_6038dup	XP_011508340.1:p.Ile2014ProfsTer19
XM_011510041.3:c.6031_6038dup	XP_011508343.1:p.Ile2014ProfsTer19
XM_017002437.1:c.4054_4061dup	XP_016857926.1:p.Ile1355ProfsTer19
XM_024450118.1:c.6031_6038dup	XP_024305886.1:p.Ile2014ProfsTer19
NM_031935.3:c.6031_6038dup MANE Select	NP_114141.2:p.Ile2014ProfsTer19