Canonical Allele Identifier: CA601245932

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs1257573109
• gnomAD v2: 11-102661740-TCTC-T
• gnomAD v3: 11-102791009-TCTC-T
• gnomAD v4: 11-102791009-TCTC-T
• MyVariant Identifiers: chr11:g.102661741_102661743del (hg19) ; chr11:g.102791010_102791012del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102791011_102791013del , CM000673.2:g.102791011_102791013del	GRCh38
NC_000011.9:g.102661742_102661744del , CM000673.1:g.102661742_102661744del	GRCh37
NC_000011.8:g.102166952_102166954del	NCBI36
NG_011740.1:g.12224_12226del
NG_011740.2:g.12224_12226del

Transcript Alleles

HGVS	Amino-acid change
ENST00000315274.7:c.1197-206_1197-204del (MMP1) MANE Select	ENSP00000322788.6:n.1197-206_1197-204del
ENST00000680179.1:n.375-206_375-204del (MMP1)
ENST00000681445.1:n.371-206_371-204del (MMP1)
ENST00000681643.1:n.397-206_397-204del (MMP1)
ENST00000315274.6:c.1197-206_1197-204del (MMP1)	ENSP00000322788.6:n.1197-206_1197-204del
ENST00000371455.7:n.325-7013_325-7011del (WTAPP1)
ENST00000525739.6:n.390-2134_390-2132del (WTAPP1)
ENST00000544704.1:n.344+6947_344+6949del (WTAPP1)
NM_001145938.1:c.999-206_999-204del (MMP1)	NP_001139410.1:n.999-206_999-204del
NM_002421.3:c.1197-206_1197-204del (MMP1)	NP_002412.1:n.1197-206_1197-204del
NR_038390.1:n.390-2134_390-2132del (WTAPP1)
NM_002421.4:c.1197-206_1197-204del (MMP1) MANE Select	NP_002412.1:n.1197-206_1197-204del
NM_001145938.2:c.999-206_999-204del (MMP1)	NP_001139410.1:n.999-206_999-204del