Canonical Allele Identifier: CA2552919297

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790276_102790277insGAT , CM000673.2:g.102790276_102790277insGAT GRCh38
NC_000011.9:g.102661007_102661008insGAT , CM000673.1:g.102661007_102661008insGAT GRCh37
NC_000011.8:g.102166217_102166218insGAT NCBI36
NG_011740.1:g.12959_12960insATC
NG_011740.2:g.12959_12960insATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000315274.7:c.*135_*136insATC (MMP1) MANE Select ENSP00000322788.6:n.*135_*136insATC
ENST00000680179.1:n.723_724insATC (MMP1)
ENST00000681445.1:n.719_720insATC (MMP1)
ENST00000681643.1:n.745_746insATC (MMP1)
ENST00000315274.6:c.*135_*136insATC (MMP1) ENSP00000322788.6:n.*135_*136insATC
ENST00000371455.7:n.325-7748_325-7747insGAT (WTAPP1)
ENST00000525739.6:n.390-2869_390-2868insGAT (WTAPP1)
ENST00000544704.1:n.344+6212_344+6213insGAT (WTAPP1)
NM_001145938.1:c.*135_*136insATC (MMP1) NP_001139410.1:n.*135_*136insATC
NM_002421.3:c.*135_*136insATC (MMP1) NP_002412.1:n.*135_*136insATC
NR_038390.1:n.390-2869_390-2868insGAT (WTAPP1)
NM_002421.4:c.*135_*136insATC (MMP1) MANE Select NP_002412.1:n.*135_*136insATC
NM_001145938.2:c.*135_*136insATC (MMP1) NP_001139410.1:n.*135_*136insATC