Canonical Allele Identifier: CA941623730

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs1857988689
• gnomAD v3: 11-102790330-ATGAC-A
• gnomAD v4: 11-102790330-ATGAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790334_102790337del , CM000673.2:g.102790334_102790337del	GRCh38
NC_000011.9:g.102661065_102661068del , CM000673.1:g.102661065_102661068del	GRCh37
NC_000011.8:g.102166275_102166278del	NCBI36
NG_011740.1:g.12902_12905del
NG_011740.2:g.12902_12905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.*78_*81del (MMP1) MANE Select	ENSP00000322788.6:n.*78_*81del
ENST00000680179.1:n.666_669del (MMP1)
ENST00000681445.1:n.662_665del (MMP1)
ENST00000681643.1:n.688_691del (MMP1)
ENST00000315274.6:c.*78_*81del (MMP1)	ENSP00000322788.6:n.*78_*81del
ENST00000371455.7:n.325-7690_325-7687del (WTAPP1)
ENST00000525739.6:n.390-2811_390-2808del (WTAPP1)
ENST00000544704.1:n.344+6270_344+6273del (WTAPP1)
NM_001145938.1:c.*78_*81del (MMP1)	NP_001139410.1:n.*78_*81del
NM_002421.3:c.*78_*81del (MMP1)	NP_002412.1:n.*78_*81del
NR_038390.1:n.390-2811_390-2808del (WTAPP1)
NM_002421.4:c.*78_*81del (MMP1) MANE Select	NP_002412.1:n.*78_*81del
NM_001145938.2:c.*78_*81del (MMP1)	NP_001139410.1:n.*78_*81del