Canonical Allele Identifier: CA2366481069
Gene: MMP9 HGNC NCBI
SLC12A5-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46016287_46016289delinsCGT , CM000682.2:g.46016287_46016289delinsCGT GRCh38
NC_000020.10:g.44644926_44644928delinsCGT , CM000682.1:g.44644926_44644928delinsCGT GRCh37
NC_000020.9:g.44078333_44078335delinsCGT NCBI36
NG_011468.1:g.12380_12382delinsCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.2043_2045delinsCGT (MMP9) MANE Select ENSP00000361405.3:p.Arg681=
NM_004994.2:c.2043_2045delinsCGT (MMP9) NP_004985.2:p.Arg681=
NR_147699.1:n.669-1501_669-1499delinsACG (SLC12A5-AS1)
NM_004994.3:c.2043_2045delinsCGT (MMP9) MANE Select NP_004985.2:p.Arg681=