Canonical Allele Identifier: CA744846544
Gene: MMP9 HGNC NCBI
SLC12A5-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1340951819
gnomAD v3: 20-46016407-ACTGGGACCAACC-A
gnomAD v4: 20-46016407-ACTGGGACCAACC-A
MyVariant Identifiers: chr20:g.44645047_44645058del (hg19) chr20:g.46016408_46016419del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46016413_46016424del , CM000682.2:g.46016413_46016424del GRCh38
NC_000020.10:g.44645052_44645063del , CM000682.1:g.44645052_44645063del GRCh37
NC_000020.9:g.44078459_44078470del NCBI36
NG_011468.1:g.12506_12517del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.*45_*56del (MMP9) MANE Select ENSP00000361405.3:n.*45_*56del
NM_004994.2:c.*45_*56del (MMP9) NP_004985.2:n.*45_*56del
NR_147699.1:n.669-1631_669-1620del (SLC12A5-AS1)
NM_004994.3:c.*45_*56del (MMP9) MANE Select NP_004985.2:n.*45_*56del
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