Canonical Allele Identifier: CA2649556965

Gene: HMCN1

Linked Data

• gnomAD v4: 1-186095493-CAGCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186095498_186095501del , CM000663.2:g.186095498_186095501del	GRCh38
NC_000001.10:g.186064630_186064633del , CM000663.1:g.186064630_186064633del	GRCh37
NC_000001.9:g.184331253_184331256del	NCBI36
NG_011841.1:g.365948_365951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.10550_10553del MANE Select	ENSP00000271588.4:p.Lys3517ThrfsTer7
ENST00000271588.8:c.10550_10553del	ENSP00000271588.4:p.Lys3517ThrfsTer7
NM_031935.2:c.10550_10553del	NP_114141.2:p.Lys3517ThrfsTer7
XM_011510037.1:c.10265_10268del	XP_011508339.1:p.Lys3422ThrfsTer7
XM_011510038.1:c.10550_10553del	XP_011508340.1:p.Lys3517ThrfsTer7
XM_011510039.1:c.10550_10553del	XP_011508341.1:p.Lys3517ThrfsTer7
XM_011510038.3:c.10550_10553del	XP_011508340.1:p.Lys3517ThrfsTer7
XM_017002437.1:c.8573_8576del	XP_016857926.1:p.Lys2858ThrfsTer7
NM_031935.3:c.10550_10553del MANE Select	NP_114141.2:p.Lys3517ThrfsTer7