Canonical Allele Identifier: CA601245922

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs1219245160
• gnomAD v2: 11-102660999-AT-A
• gnomAD v3: 11-102790268-AT-A
• gnomAD v4: 11-102790268-AT-A
• MyVariant Identifiers: chr11:g.102661000del (hg19) ; chr11:g.102790269del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790269del , CM000673.2:g.102790269del	GRCh38
NC_000011.9:g.102661000del , CM000673.1:g.102661000del	GRCh37
NC_000011.8:g.102166210del	NCBI36
NG_011740.1:g.12967del
NG_011740.2:g.12967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.*143del (MMP1) MANE Select	ENSP00000322788.6:n.*143del
ENST00000680179.1:n.731del (MMP1)
ENST00000681445.1:n.727del (MMP1)
ENST00000681643.1:n.753del (MMP1)
ENST00000315274.6:c.*143del (MMP1)	ENSP00000322788.6:n.*143del
ENST00000371455.7:n.325-7755del (WTAPP1)
ENST00000525739.6:n.390-2876del (WTAPP1)
ENST00000544704.1:n.344+6205del (WTAPP1)
NM_001145938.1:c.*143del (MMP1)	NP_001139410.1:n.*143del
NM_002421.3:c.*143del (MMP1)	NP_002412.1:n.*143del
NR_038390.1:n.390-2876del (WTAPP1)
NM_002421.4:c.*143del (MMP1) MANE Select	NP_002412.1:n.*143del
NM_001145938.2:c.*143del (MMP1)	NP_001139410.1:n.*143del