Canonical Allele Identifier: CA1292136

Gene: HMCN1

Linked Data

• ClinVar Variation Id: 294156
• ClinVar RCV Id: RCV000346545 ; RCV002059371 ; RCV003445831
• dbSNP Id: rs200156765
• ExAC: 1:185985074 CTA / C
• gnomAD v2: 1-185985074-CTA-C
• gnomAD v3: 1-186015942-CTA-C
• gnomAD v4: 1-186015942-CTA-C
• MyVariant Identifiers: chr1:g.185985076_185985077del (hg19) ; chr1:g.185985075_185985076del (hg19) ; chr1:g.186015944_186015945del (hg38) ; chr1:g.186015943_186015944del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186015944_186015945del , CM000663.2:g.186015944_186015945del	GRCh38
NC_000001.10:g.185985076_185985077del , CM000663.1:g.185985076_185985077del	GRCh37
NC_000001.9:g.184251699_184251700del	NCBI36
NG_011841.1:g.286394_286395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.4910-14_4910-13del MANE Select	ENSP00000271588.4:n.4910-14_4910-13del
ENST00000271588.8:c.4910-14_4910-13del	ENSP00000271588.4:n.4910-14_4910-13del
NM_031935.2:c.4910-14_4910-13del	NP_114141.2:n.4910-14_4910-13del
XM_011510037.1:c.4910-14_4910-13del	XP_011508339.1:n.4910-14_4910-13del
XM_011510038.1:c.4910-14_4910-13del	XP_011508340.1:n.4910-14_4910-13del
XM_011510039.1:c.4910-14_4910-13del	XP_011508341.1:n.4910-14_4910-13del
XM_011510040.1:c.4910-14_4910-13del	XP_011508342.1:n.4910-14_4910-13del
XM_011510041.1:c.4910-14_4910-13del	XP_011508343.1:n.4910-14_4910-13del
XM_011510038.3:c.4910-14_4910-13del	XP_011508340.1:n.4910-14_4910-13del
XM_011510041.3:c.4910-14_4910-13del	XP_011508343.1:n.4910-14_4910-13del
XM_017002437.1:c.2933-14_2933-13del	XP_016857926.1:n.2933-14_2933-13del
XM_024450118.1:c.4910-14_4910-13del	XP_024305886.1:n.4910-14_4910-13del
NM_031935.3:c.4910-14_4910-13del MANE Select	NP_114141.2:n.4910-14_4910-13del