Canonical Allele Identifier: CA510751649

Gene: MMP9

Linked Data

• dbSNP Id: rs1414646892
• gnomAD v2: 20-44639586-CG-C
• gnomAD v4: 20-46010947-CG-C
• MyVariant Identifiers: chr20:g.44639587del (hg19) ; chr20:g.46010948del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46010950del , CM000682.2:g.46010950del	GRCh38
NC_000020.10:g.44639589del , CM000682.1:g.44639589del	GRCh37
NC_000020.9:g.44072996del	NCBI36
NG_011468.1:g.7043del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372330.3:c.549del MANE Select	ENSP00000361405.3:p.Lys184ArgfsTer?
NM_004994.2:c.549del	NP_004985.2:p.Lys184ArgfsTer?
NM_004994.3:c.549del MANE Select	NP_004985.2:p.Lys184ArgfsTer?