Canonical Allele Identifier: CA636039223
Gene: MMP9 HGNC NCBI
SLC12A5-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1460225504
gnomAD v2: 20-44645069-AG-A
gnomAD v3: 20-46016430-AG-A
gnomAD v4: 20-46016430-AG-A
MyVariant Identifiers: chr20:g.44645070del (hg19) chr20:g.46016431del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46016431del , CM000682.2:g.46016431del GRCh38
NC_000020.10:g.44645070del , CM000682.1:g.44645070del GRCh37
NC_000020.9:g.44078477del NCBI36
NG_011468.1:g.12524del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.*63del (MMP9) MANE Select ENSP00000361405.3:n.*63del
NM_004994.2:c.*63del (MMP9) NP_004985.2:n.*63del
NR_147699.1:n.669-1643del (SLC12A5-AS1)
NM_004994.3:c.*63del (MMP9) MANE Select NP_004985.2:n.*63del
Search 100 bp 5'
Search 100 bp 3'