Canonical Allele Identifier: CA2123185504

Gene: MMP14

Linked Data

• dbSNP Id: rs2039790357
• gnomAD v4: 14-22843722-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22843723_22843724del , CM000676.2:g.22843723_22843724del	GRCh38
NC_000014.8:g.23312932_23312933del , CM000676.1:g.23312932_23312933del	GRCh37
NC_000014.7:g.22382772_22382773del	NCBI36
NG_046989.1:g.12191_12192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311852.11:c.864_865del MANE Select	ENSP00000308208.6:p.Phe289ProfsTer18
ENST00000548162.2:c.864_865del	ENSP00000506068.1:p.Phe289ProfsTer18
ENST00000680097.1:c.*179_*180del	ENSP00000506631.1:n.*179_*180del
ENST00000680941.1:c.*262_*263del	ENSP00000506378.1:n.*262_*263del
ENST00000311852.10:c.864_865del	ENSP00000308208.6:p.Phe289ProfsTer18
ENST00000548162.1:n.1106_1107del
NM_004995.3:c.864_865del	NP_004986.1:p.Phe289ProfsTer18
NM_004995.4:c.864_865del MANE Select	NP_004986.1:p.Phe289ProfsTer18