Canonical Allele Identifier: CA2615724974

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790312del , CM000673.2:g.102790312del GRCh38
NC_000011.9:g.102661043del , CM000673.1:g.102661043del GRCh37
NC_000011.8:g.102166253del NCBI36
NG_011740.1:g.12924del
NG_011740.2:g.12924del

Transcript Alleles

HGVS Amino-acid Change
ENST00000315274.7:c.*100del (MMP1) MANE Select ENSP00000322788.6:n.*100del
ENST00000680179.1:n.688del (MMP1)
ENST00000681445.1:n.684del (MMP1)
ENST00000681643.1:n.710del (MMP1)
ENST00000315274.6:c.*100del (MMP1) ENSP00000322788.6:n.*100del
ENST00000371455.7:n.325-7712del (WTAPP1)
ENST00000525739.6:n.390-2833del (WTAPP1)
ENST00000544704.1:n.344+6248del (WTAPP1)
NM_001145938.1:c.*100del (MMP1) NP_001139410.1:n.*100del
NM_002421.3:c.*100del (MMP1) NP_002412.1:n.*100del
NR_038390.1:n.390-2833del (WTAPP1)
NM_002421.4:c.*100del (MMP1) MANE Select NP_002412.1:n.*100del
NM_001145938.2:c.*100del (MMP1) NP_001139410.1:n.*100del