Canonical Allele Identifier: CA744846208
Gene: MMP9 HGNC NCBI
SLC12A5-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1287635769
gnomAD v3: 20-46015936-GAATGAGCGTTGA-G
gnomAD v4: 20-46015936-GAATGAGCGTTGA-G
MyVariant Identifiers: chr20:g.44644576_44644587del (hg19) chr20:g.46015937_46015948del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46015938_46015949del , CM000682.2:g.46015938_46015949del GRCh38
NC_000020.10:g.44644577_44644588del , CM000682.1:g.44644577_44644588del GRCh37
NC_000020.9:g.44077984_44077995del NCBI36
NG_011468.1:g.12031_12042del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.2006-312_2006-301del (MMP9) MANE Select ENSP00000361405.3:n.2006-312_2006-301del
NM_004994.2:c.2006-312_2006-301del (MMP9) NP_004985.2:n.2006-312_2006-301del
NR_147699.1:n.669-1160_669-1149del (SLC12A5-AS1)
NM_004994.3:c.2006-312_2006-301del (MMP9) MANE Select NP_004985.2:n.2006-312_2006-301del
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Search 100 bp 3'