Canonical Allele Identifier: CA10633174

Gene: MMP13

Linked Data

• ClinVar Variation Id: 301961
• ClinVar RCV Id: RCV000364412 ; RCV000390277 ; RCV001683218
• dbSNP Id: rs35477433
• gnomAD v2: 11-102813997-T-TA
• gnomAD v3: 11-102943268-T-TA
• gnomAD v4: 11-102943268-T-TA
• COSMIC: COSN20108679
• MyVariant Identifiers: chr11:g.102813998dupA (hg19) ; chr11:g.102813998_102813999insA (hg19) ; chr11:g.102813997_102813998insA (hg19) ; chr11:g.102943269dupA (hg38) ; chr11:g.102943269_102943270insA (hg38) ; chr11:g.102943268_102943269insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102943277dup , CM000673.2:g.102943277dup	GRCh38
NC_000011.9:g.102814006dup , CM000673.1:g.102814006dup	GRCh37
NC_000011.8:g.102319216dup	NCBI36
NG_021404.1:g.17466dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260302.8:c.*997dup MANE Select	ENSP00000260302.3:n.*997dup
ENST00000260302.7:c.*997dup	ENSP00000260302.3:n.*997dup
NM_002427.3:c.*997dup	NP_002418.1:n.*997dup
NM_002427.4:c.*997dup MANE Select	NP_002418.1:n.*997dup