Canonical Allele Identifier: CA10629694
Gene: MMP20 HGNC NCBI

Linked Data

ClinVar Variation Id: 301940
ClinVar RCV Id: RCV000289827
dbSNP Id: rs1491264939
gnomAD v2: 11-102465501-CCA-C
gnomAD v3: 11-102594770-CCA-C
gnomAD v4: 11-102594770-CCA-C
MyVariant Identifiers: chr11:g.102465502_102465503del (hg19) chr11:g.102465502_102465504delinsA (hg19) chr11:g.102594771_102594772del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102594771_102594772del , CM000673.2:g.102594771_102594772del GRCh38
NC_000011.9:g.102465502_102465503del , CM000673.1:g.102465502_102465503del GRCh37
NC_000011.8:g.101970712_101970713del NCBI36
NG_012151.1:g.35561_35562del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260228.3:c.954-15_954-14del MANE Select ENSP00000260228.2:n.954-15_954-14del
ENST00000260228.2:c.954-15_954-14del ENSP00000260228.2:n.954-15_954-14del
ENST00000544938.1:n.593-15_593-14del
NM_004771.3:c.954-15_954-14del NP_004762.2:n.954-15_954-14del
NM_004771.4:c.954-15_954-14del MANE Select NP_004762.2:n.954-15_954-14del
Search 100 bp 5'
Search 100 bp 3'