Canonical Allele Identifier: CA9886542
Gene: MMP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1371730
ClinVar RCV Id: RCV001899644
ExAC: 20:44640207 C / CCCCAGGACTCTACA
gnomAD v2: 20-44640207-C-CCCCAGGACTCTACA
gnomAD v3: 20-46011568-C-CCCCAGGACTCTACA
gnomAD v4: 20-46011568-C-CCCCAGGACTCTACA
MyVariant Identifiers: chr20:g.44640221_44640222insCCCAGGACTCTACA (hg19) chr20:g.44640207_44640208insCCCAGGACTCTACA (hg19) chr20:g.46011568_46011569insCCCAGGACTCTACA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46011577_46011590dup , CM000682.2:g.46011577_46011590dup GRCh38
NC_000020.10:g.44640216_44640229dup , CM000682.1:g.44640216_44640229dup GRCh37
NC_000020.9:g.44073623_44073636dup NCBI36
NG_011468.1:g.7670_7683dup

Transcript Alleles

HGVS Amino-acid change
ENST00000372330.3:c.827_840dup
NM_004994.2:c.827_840dup
NM_004994.3:c.827_840dup
Search 100 bp 5'
Search 100 bp 3'