Canonical Allele Identifier: CA9886441
Gene: MMP9 HGNC NCBI

Linked Data

dbSNP Id: rs762420363
ExAC: 20:44639598 G / GCTCCTGGCACACGCCTTTC
gnomAD v2: 20-44639598-G-GCTCCTGGCACACGCCTTTC
gnomAD v4: 20-46010959-G-GCTCCTGGCACACGCCTTTC
MyVariant Identifiers: chr20:g.44639598_44639599insCTCCTGGCACACGCCTTTC (hg19) chr20:g.46010959_46010960insCTCCTGGCACACGCCTTTC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46010968_46010986dup , CM000682.2:g.46010968_46010986dup GRCh38
NC_000020.10:g.44639607_44639625dup , CM000682.1:g.44639607_44639625dup GRCh37
NC_000020.9:g.44073014_44073032dup NCBI36
NG_011468.1:g.7061_7079dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.567_585dup MANE Select ENSP00000361405.3:p.Pro196ThrfsTer18
NM_004994.2:c.567_585dup NP_004985.2:p.Pro196ThrfsTer18
NM_004994.3:c.567_585dup MANE Select NP_004985.2:p.Pro196ThrfsTer18
Search 100 bp 5'
Search 100 bp 3'