Canonical Allele Identifier: CA257746730

Gene: MMP14

Linked Data

• dbSNP Id: rs1012026545
• gnomAD v3: 14-22843562-CAT-C
• gnomAD v4: 14-22843562-CAT-C
• MyVariant Identifiers: chr14:g.23312772_23312773del (hg19) ; chr14:g.22843563_22843564del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22843563_22843564del , CM000676.2:g.22843563_22843564del	GRCh38
NC_000014.8:g.23312772_23312773del , CM000676.1:g.23312772_23312773del	GRCh37
NC_000014.7:g.22382612_22382613del	NCBI36
NG_046989.1:g.12031_12032del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311852.11:c.850+145_851-146del MANE Select	ENSP00000308208.6:n.850+145_851-146del
ENST00000548162.2:c.850+145_851-146del	ENSP00000506068.1:n.850+145_851-146del
ENST00000680097.1:c.*165+145_*166-146del	ENSP00000506631.1:n.*165+145_*166-146del
ENST00000680941.1:c.*248+145_*249-146del	ENSP00000506378.1:n.*248+145_*249-146del
ENST00000311852.10:c.850+145_851-146del	ENSP00000308208.6:n.850+145_851-146del
ENST00000548162.1:n.1092+145_1093-146del
NM_004995.3:c.850+145_851-146del	NP_004986.1:n.850+145_851-146del
NM_004995.4:c.850+145_851-146del MANE Select	NP_004986.1:n.850+145_851-146del