Canonical Allele Identifier: CA257746586
Gene: MMP14 HGNC NCBI

Linked Data

dbSNP Id: rs1041097052
gnomAD v2: 14-23312675-CT-C
gnomAD v3: 14-22843466-CT-C
gnomAD v4: 14-22843466-CT-C
MyVariant Identifiers: chr14:g.23312676del (hg19) chr14:g.22843467del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22843467del , CM000676.2:g.22843467del GRCh38
NC_000014.8:g.23312676del , CM000676.1:g.23312676del GRCh37
NC_000014.7:g.22382516del NCBI36
NG_046989.1:g.11935del

Transcript Alleles

HGVS Amino-acid Change
ENST00000311852.11:c.850+49del MANE Select ENSP00000308208.6:n.850+49del
ENST00000548162.2:c.850+49del ENSP00000506068.1:n.850+49del
ENST00000680097.1:c.*165+49del ENSP00000506631.1:n.*165+49del
ENST00000680941.1:c.*248+49del ENSP00000506378.1:n.*248+49del
ENST00000311852.10:c.850+49del ENSP00000308208.6:n.850+49del
ENST00000548162.1:n.1092+49del
NM_004995.3:c.850+49del NP_004986.1:n.850+49del
NM_004995.4:c.850+49del MANE Select NP_004986.1:n.850+49del
Search 100 bp 5'
Search 100 bp 3'