Canonical Allele Identifier: CA33453508

Gene: HMCN1

Linked Data

• dbSNP Id: rs886570043
• gnomAD v3: 1-186015292-CAT-C
• gnomAD v4: 1-186015292-CAT-C
• MyVariant Identifiers: chr1:g.185984425_185984426del (hg19) ; chr1:g.186015293_186015294del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186015293_186015294del , CM000663.2:g.186015293_186015294del	GRCh38
NC_000001.10:g.185984425_185984426del , CM000663.1:g.185984425_185984426del	GRCh37
NC_000001.9:g.184251048_184251049del	NCBI36
NG_011841.1:g.285743_285744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.4765_4766del MANE Select	ENSP00000271588.4:p.Met1589ValfsTer9
ENST00000271588.8:c.4765_4766del	ENSP00000271588.4:p.Met1589ValfsTer9
NM_031935.2:c.4765_4766del	NP_114141.2:p.Met1589ValfsTer9
XM_011510037.1:c.4765_4766del	XP_011508339.1:p.Met1589ValfsTer9
XM_011510038.1:c.4765_4766del	XP_011508340.1:p.Met1589ValfsTer9
XM_011510039.1:c.4765_4766del	XP_011508341.1:p.Met1589ValfsTer9
XM_011510040.1:c.4765_4766del	XP_011508342.1:p.Met1589ValfsTer9
XM_011510041.1:c.4765_4766del	XP_011508343.1:p.Met1589ValfsTer9
XM_011510038.3:c.4765_4766del	XP_011508340.1:p.Met1589ValfsTer9
XM_011510041.3:c.4765_4766del	XP_011508343.1:p.Met1589ValfsTer9
XM_017002437.1:c.2788_2789del	XP_016857926.1:p.Met930ValfsTer9
XM_024450118.1:c.4765_4766del	XP_024305886.1:p.Met1589ValfsTer9
NM_031935.3:c.4765_4766del MANE Select	NP_114141.2:p.Met1589ValfsTer9