Canonical Allele Identifier: CA6248244

Gene: MMP20

Linked Data

• ClinVar Variation Id: 301941
• ClinVar RCV Id: RCV000347590 ; RCV001672435
• dbSNP Id: rs144425539
• ExAC: 11:102465502 CAA / C
• gnomAD v2: 11-102465502-CAA-C
• gnomAD v3: 11-102594771-CAA-C
• gnomAD v4: 11-102594771-CAA-C
• MyVariant Identifiers: chr11:g.102465510_102465511del (hg19) ; chr11:g.102465506_102465507del (hg19) ; chr11:g.102465505_102465506del (hg19) ; chr11:g.102465503_102465504del (hg19) ; chr11:g.102594774_102594775del (hg38) ; chr11:g.102594772_102594773del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102594790_102594791del , CM000673.2:g.102594790_102594791del	GRCh38
NC_000011.9:g.102465521_102465522del , CM000673.1:g.102465521_102465522del	GRCh37
NC_000011.8:g.101970731_101970732del	NCBI36
NG_012151.1:g.35560_35561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260228.3:c.954-16_954-15del MANE Select	ENSP00000260228.2:n.954-16_954-15del
ENST00000260228.2:c.954-16_954-15del	ENSP00000260228.2:n.954-16_954-15del
ENST00000544938.1:n.593-16_593-15del
NM_004771.3:c.954-16_954-15del	NP_004762.2:n.954-16_954-15del
NM_004771.4:c.954-16_954-15del MANE Select	NP_004762.2:n.954-16_954-15del