Canonical Allele Identifier: CA9886508
Gene: MMP9 HGNC NCBI

Linked Data

dbSNP Id: rs773982241
ExAC: 20:44639931 CG / C
gnomAD v2: 20-44639931-CG-C
gnomAD v4: 20-46011292-CG-C
MyVariant Identifiers: chr20:g.44639932del (hg19) chr20:g.46011293del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46011294del , CM000682.2:g.46011294del GRCh38
NC_000020.10:g.44639933del , CM000682.1:g.44639933del GRCh37
NC_000020.9:g.44073340del NCBI36
NG_011468.1:g.7387del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.801del MANE Select ENSP00000361405.3:p.Phe268LeufsTer?
NM_004994.2:c.801del NP_004985.2:p.Phe268LeufsTer?
NM_004994.3:c.801del MANE Select NP_004985.2:p.Phe268LeufsTer?
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