Canonical Allele Identifier: CA2994116870

Gene: HMCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186095389dup , CM000663.2:g.186095389dup	GRCh38
NC_000001.10:g.186064521dup , CM000663.1:g.186064521dup	GRCh37
NC_000001.9:g.184331144dup	NCBI36
NG_011841.1:g.365839dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.10441dup MANE Select	ENSP00000271588.4:p.His3481ProfsTer19
ENST00000271588.8:c.10441dup	ENSP00000271588.4:p.His3481ProfsTer19
NM_031935.2:c.10441dup	NP_114141.2:p.His3481ProfsTer19
XM_011510037.1:c.10156dup	XP_011508339.1:p.His3386ProfsTer19
XM_011510038.1:c.10441dup	XP_011508340.1:p.His3481ProfsTer19
XM_011510039.1:c.10441dup	XP_011508341.1:p.His3481ProfsTer19
XM_011510038.3:c.10441dup	XP_011508340.1:p.His3481ProfsTer19
XM_017002437.1:c.8464dup	XP_016857926.1:p.His2822ProfsTer19
XM_024450118.1:c.*89dup	XP_024305886.1:n.*89dup
NM_031935.3:c.10441dup MANE Select	NP_114141.2:p.His3481ProfsTer19