Canonical Allele Identifier: CA2649550600

Gene: HMCN1

Linked Data

• gnomAD v4: 1-185994865-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.185994867_185994868del , CM000663.2:g.185994867_185994868del	GRCh38
NC_000001.10:g.185963999_185964000del , CM000663.1:g.185963999_185964000del	GRCh37
NC_000001.9:g.184230622_184230623del	NCBI36
NG_011841.1:g.265317_265318del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.3558_3559del MANE Select	ENSP00000271588.4:p.Arg1187SerfsTer6
ENST00000271588.8:c.3558_3559del	ENSP00000271588.4:p.Arg1187SerfsTer6
NM_031935.2:c.3558_3559del	NP_114141.2:p.Arg1187SerfsTer6
XM_011510037.1:c.3558_3559del	XP_011508339.1:p.Arg1187SerfsTer6
XM_011510038.1:c.3558_3559del	XP_011508340.1:p.Arg1187SerfsTer6
XM_011510039.1:c.3558_3559del	XP_011508341.1:p.Arg1187SerfsTer6
XM_011510040.1:c.3558_3559del	XP_011508342.1:p.Arg1187SerfsTer6
XM_011510041.1:c.3558_3559del	XP_011508343.1:p.Arg1187SerfsTer6
XM_011510038.3:c.3558_3559del	XP_011508340.1:p.Arg1187SerfsTer6
XM_011510041.3:c.3558_3559del	XP_011508343.1:p.Arg1187SerfsTer6
XM_017002437.1:c.1581_1582del	XP_016857926.1:p.Arg528SerfsTer6
XM_024450118.1:c.3558_3559del	XP_024305886.1:p.Arg1187SerfsTer6
NM_031935.3:c.3558_3559del MANE Select	NP_114141.2:p.Arg1187SerfsTer6