Canonical Allele Identifier: CA257746159

Gene: MMP14

Linked Data

• dbSNP Id: rs369695648
• gnomAD v2: 14-23312328-TAGACCTC-T
• gnomAD v3: 14-22843119-TAGACCTC-T
• gnomAD v4: 14-22843119-TAGACCTC-T
• MyVariant Identifiers: chr14:g.23312329_23312335del (hg19) ; chr14:g.22843120_22843126del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22843123_22843129del , CM000676.2:g.22843123_22843129del	GRCh38
NC_000014.8:g.23312332_23312338del , CM000676.1:g.23312332_23312338del	GRCh37
NC_000014.7:g.22382172_22382178del	NCBI36
NG_046989.1:g.11591_11597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311852.11:c.689-134_689-128del MANE Select	ENSP00000308208.6:n.689-134_689-128del
ENST00000548162.2:c.689-134_689-128del	ENSP00000506068.1:n.689-134_689-128del
ENST00000680097.1:c.*4-134_*4-128del	ENSP00000506631.1:n.*4-134_*4-128del
ENST00000680941.1:c.*37_*43del	ENSP00000506378.1:n.*37_*43del
ENST00000311852.10:c.689-134_689-128del	ENSP00000308208.6:n.689-134_689-128del
ENST00000548162.1:n.931-134_931-128del
NM_004995.3:c.689-134_689-128del	NP_004986.1:n.689-134_689-128del
NM_004995.4:c.689-134_689-128del MANE Select	NP_004986.1:n.689-134_689-128del