Canonical Allele Identifier: CA941623916

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs1858010084
• gnomAD v3: 11-102790889-GAATTTAACCAGAATATTTCATTTTATAGATCATTTGTGAAATGGGGAGTGGATGGGATA-G
• gnomAD v4: 11-102790889-GAATTTAACCAGAATATTTCATTTTATAGATCATTTGTGAAATGGGGAGTGGATGGGATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790891_102790949del , CM000673.2:g.102790891_102790949del	GRCh38
NC_000011.9:g.102661622_102661680del , CM000673.1:g.102661622_102661680del	GRCh37
NC_000011.8:g.102166832_102166890del	NCBI36
NG_011740.1:g.12288_12346del
NG_011740.2:g.12288_12346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.1197-142_1197-84del (MMP1) MANE Select	ENSP00000322788.6:n.1197-142_1197-84del
ENST00000680179.1:n.375-142_375-84del (MMP1)
ENST00000681445.1:n.371-142_371-84del (MMP1)
ENST00000681643.1:n.397-142_397-84del (MMP1)
ENST00000315274.6:c.1197-142_1197-84del (MMP1)	ENSP00000322788.6:n.1197-142_1197-84del
ENST00000371455.7:n.325-7133_325-7075del (WTAPP1)
ENST00000525739.6:n.390-2254_390-2196del (WTAPP1)
ENST00000544704.1:n.344+6827_344+6885del (WTAPP1)
NM_001145938.1:c.999-142_999-84del (MMP1)	NP_001139410.1:n.999-142_999-84del
NM_002421.3:c.1197-142_1197-84del (MMP1)	NP_002412.1:n.1197-142_1197-84del
NR_038390.1:n.390-2254_390-2196del (WTAPP1)
NM_002421.4:c.1197-142_1197-84del (MMP1) MANE Select	NP_002412.1:n.1197-142_1197-84del
NM_001145938.2:c.999-142_999-84del (MMP1)	NP_001139410.1:n.999-142_999-84del