Canonical Allele Identifier: CA2501267446
Gene: PDILT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20389547_20389548del , CM000678.2:g.20389547_20389548del GRCh38
NC_000016.9:g.20400869_20400870del , CM000678.1:g.20400869_20400870del GRCh37
NC_000016.8:g.20308370_20308371del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302451.9:c.203-4697_203-4696del MANE Select ENSP00000305465.4:n.203-4697_203-4696del
ENST00000302451.8:c.203-4697_203-4696del ENSP00000305465.4:n.203-4697_203-4696del
ENST00000575561.1:c.203-639_203-638del ENSP00000459161.1:n.203-639_203-638del
NM_174924.1:c.203-4697_203-4696del NP_777584.1:n.203-4697_203-4696del
XM_006721024.1:c.203-4697_203-4696del XP_006721087.1:n.203-4697_203-4696del
XM_011545764.1:c.203-4697_203-4696del XP_011544066.1:n.203-4697_203-4696del
XM_011545765.1:c.203-4697_203-4696del XP_011544067.1:n.203-4697_203-4696del
XR_950754.1:n.457-4697_457-4696del
NM_174924.2:c.203-4697_203-4696del MANE Select NP_777584.1:n.203-4697_203-4696del