Canonical Allele Identifier: CA2123185395

Gene: MMP14

Linked Data

• dbSNP Id: rs2039788355
• gnomAD v4: 14-22843516-C-CCCCCTGCCAACCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22843525_22843538dup , CM000676.2:g.22843525_22843538dup	GRCh38
NC_000014.8:g.23312734_23312747dup , CM000676.1:g.23312734_23312747dup	GRCh37
NC_000014.7:g.22382574_22382587dup	NCBI36
NG_046989.1:g.11993_12006dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311852.11:c.850+107_850+120dup MANE Select	ENSP00000308208.6:n.850+107_850+120dup
ENST00000548162.2:c.850+107_850+120dup	ENSP00000506068.1:n.850+107_850+120dup
ENST00000680097.1:c.*165+107_*165+120dup	ENSP00000506631.1:n.*165+107_*165+120dup
ENST00000680941.1:c.*248+107_*248+120dup	ENSP00000506378.1:n.*248+107_*248+120dup
ENST00000311852.10:c.850+107_850+120dup	ENSP00000308208.6:n.850+107_850+120dup
ENST00000548162.1:n.1092+107_1092+120dup
NM_004995.3:c.850+107_850+120dup	NP_004986.1:n.850+107_850+120dup
NM_004995.4:c.850+107_850+120dup MANE Select	NP_004986.1:n.850+107_850+120dup