Canonical Allele Identifier: CA2211961394
Gene: PDILT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20389107_20389132delinsCCCAGTGGGCTGTAGATAGGCAGAGG , CM000678.2:g.20389107_20389132delinsCCCAGTGGGCTGTAGATAGGCAGAGG GRCh38
NC_000016.9:g.20400429_20400454delinsCCCAGTGGGCTGTAGATAGGCAGAGG , CM000678.1:g.20400429_20400454delinsCCCAGTGGGCTGTAGATAGGCAGAGG GRCh37
NC_000016.8:g.20307930_20307955delinsCCCAGTGGGCTGTAGATAGGCAGAGG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302451.9:c.203-4281_203-4256delinsCCTCTGCCTATCTACAGCCCACTGGG MANE Select ENSP00000305465.4:n.203-4281_203-4256delinsCCTCTGCCTATCTACAGC...
ENST00000302451.8:c.203-4281_203-4256delinsCCTCTGCCTATCTACAGCCCACTGGG ENSP00000305465.4:n.203-4281_203-4256delinsCCTCTGCCTATCTACAGC...
ENST00000575561.1:c.203-223_203-198delinsCCTCTGCCTATCTACAGCCCACTGGG ENSP00000459161.1:n.203-223_203-198delinsCCTCTGCCTATCTACAGCCC...
NM_174924.1:c.203-4281_203-4256delinsCCTCTGCCTATCTACAGCCCACTGGG NP_777584.1:n.203-4281_203-4256delinsCCTCTGCCTATCTACAGCCCACTG...
XM_006721024.1:c.203-4281_203-4256delinsCCTCTGCCTATCTACAGCCCACTGGG XP_006721087.1:n.203-4281_203-4256delinsCCTCTGCCTATCTACAGCCCA...
XM_011545764.1:c.203-4281_203-4256delinsCCTCTGCCTATCTACAGCCCACTGGG XP_011544066.1:n.203-4281_203-4256delinsCCTCTGCCTATCTACAGCCCA...
XM_011545765.1:c.203-4281_203-4256delinsCCTCTGCCTATCTACAGCCCACTGGG XP_011544067.1:n.203-4281_203-4256delinsCCTCTGCCTATCTACAGCCCA...
XR_950754.1:n.457-4281_457-4256delinsCCTCTGCCTATCTACAGCCCACTGGG
NM_174924.2:c.203-4281_203-4256delinsCCTCTGCCTATCTACAGCCCACTGGG MANE Select NP_777584.1:n.203-4281_203-4256delinsCCTCTGCCTATCTACAGCCCACTG...