Canonical Allele Identifier: CA670870000

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs1185399103
• gnomAD v3: 11-102790207-CA-C
• gnomAD v4: 11-102790207-CA-C
• MyVariant Identifiers: chr11:g.102660939del (hg19) ; chr11:g.102790208del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790208del , CM000673.2:g.102790208del	GRCh38
NC_000011.9:g.102660939del , CM000673.1:g.102660939del	GRCh37
NC_000011.8:g.102166149del	NCBI36
NG_011740.1:g.13028del
NG_011740.2:g.13028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.*204del (MMP1) MANE Select	ENSP00000322788.6:n.*204del
ENST00000680179.1:n.792del (MMP1)
ENST00000681445.1:n.788del (MMP1)
ENST00000681643.1:n.814del (MMP1)
ENST00000315274.6:c.*204del (MMP1)	ENSP00000322788.6:n.*204del
ENST00000371455.7:n.325-7816del (WTAPP1)
ENST00000525739.6:n.390-2937del (WTAPP1)
ENST00000544704.1:n.344+6144del (WTAPP1)
NM_001145938.1:c.*204del (MMP1)	NP_001139410.1:n.*204del
NM_002421.3:c.*204del (MMP1)	NP_002412.1:n.*204del
NR_038390.1:n.390-2937del (WTAPP1)
NM_002421.4:c.*204del (MMP1) MANE Select	NP_002412.1:n.*204del
NM_001145938.2:c.*204del (MMP1)	NP_001139410.1:n.*204del