Canonical Allele Identifier: CA2994116945

Gene: HMCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186095487del , CM000663.2:g.186095487del	GRCh38
NC_000001.10:g.186064619del , CM000663.1:g.186064619del	GRCh37
NC_000001.9:g.184331242del	NCBI36
NG_011841.1:g.365937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.10539del MANE Select	ENSP00000271588.4:p.Glu3514LysfsTer11
ENST00000271588.8:c.10539del	ENSP00000271588.4:p.Glu3514LysfsTer11
NM_031935.2:c.10539del	NP_114141.2:p.Glu3514LysfsTer11
XM_011510037.1:c.10254del	XP_011508339.1:p.Glu3419LysfsTer11
XM_011510038.1:c.10539del	XP_011508340.1:p.Glu3514LysfsTer11
XM_011510039.1:c.10539del	XP_011508341.1:p.Glu3514LysfsTer11
XM_011510038.3:c.10539del	XP_011508340.1:p.Glu3514LysfsTer11
XM_017002437.1:c.8562del	XP_016857926.1:p.Glu2855LysfsTer11
NM_031935.3:c.10539del MANE Select	NP_114141.2:p.Glu3514LysfsTer11