Canonical Allele Identifier: CA2580061671

Gene: HMCN1

Linked Data

• ClinVar Variation Id: 2169305
• ClinVar RCV Id: RCV003093126

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186015385_186015386delinsCA , CM000663.2:g.186015385_186015386delinsCA	GRCh38
NC_000001.10:g.185984517_185984518delinsCA , CM000663.1:g.185984517_185984518delinsCA	GRCh37
NC_000001.9:g.184251140_184251141delinsCA	NCBI36
NG_011841.1:g.285835_285836delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.4857_4858delinsCA MANE Select	ENSP00000271588.4:p.Val1620Ile
ENST00000271588.8:c.4857_4858delinsCA	ENSP00000271588.4:p.Val1620Ile
NM_031935.2:c.4857_4858delinsCA	NP_114141.2:p.Val1620Ile
XM_011510037.1:c.4857_4858delinsCA	XP_011508339.1:p.Val1620Ile
XM_011510038.1:c.4857_4858delinsCA	XP_011508340.1:p.Val1620Ile
XM_011510039.1:c.4857_4858delinsCA	XP_011508341.1:p.Val1620Ile
XM_011510040.1:c.4857_4858delinsCA	XP_011508342.1:p.Val1620Ile
XM_011510041.1:c.4857_4858delinsCA	XP_011508343.1:p.Val1620Ile
XM_011510038.3:c.4857_4858delinsCA	XP_011508340.1:p.Val1620Ile
XM_011510041.3:c.4857_4858delinsCA	XP_011508343.1:p.Val1620Ile
XM_017002437.1:c.2880_2881delinsCA	XP_016857926.1:p.Val961Ile
XM_024450118.1:c.4857_4858delinsCA	XP_024305886.1:p.Val1620Ile
NM_031935.3:c.4857_4858delinsCA MANE Select	NP_114141.2:p.Val1620Ile