Canonical Allele Identifier: CA456331007
Community Standard Title: NM_001395413.1(POR):c.1320del (p.Ile441SerfsTer?)
Gene: POR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75985138del , CM000669.2:g.75985138del GRCh38
NC_000007.13:g.75614456del , CM000669.1:g.75614456del GRCh37
NC_000007.12:g.75452392del NCBI36
NG_008930.1:g.75037del

Transcript Alleles

HGVS Amino-acid Change
NM_001395413.1:c.1320del MANE Select NP_001382342.1:p.Ile441SerfsTer?
ENST00000461988.6:c.1329del MANE Select ENSP00000419970.1:p.Ile444SerfsTer?
NM_000941.2:c.1329del NP_000932.3:p.Ile444SerfsTer?
NM_000941.3:c.1329del NP_000932.3:p.Ile444SerfsTer?
NM_001367562.1:c.1329del NP_001354491.1:p.Ile444SerfsTer?
NM_001367562.3:c.1320del NP_001354491.2:p.Ile441SerfsTer?
NM_001382655.1:c.1383del NP_001369584.1:p.Ile462SerfsTer?
NM_001382655.3:c.1374del NP_001369584.2:p.Ile459SerfsTer?
NM_001382657.1:c.1329del NP_001369586.1:p.Ile444SerfsTer?
NM_001382657.2:c.1320del NP_001369586.2:p.Ile441SerfsTer?
NM_001382658.1:c.1329del NP_001369587.1:p.Ile444SerfsTer?
NM_001382658.3:c.1320del NP_001369587.2:p.Ile441SerfsTer?
NM_001382659.1:c.1329del NP_001369588.1:p.Ile444SerfsTer?
NM_001382659.3:c.1320del NP_001369588.2:p.Ile441SerfsTer?
NM_001382662.1:c.1248+180del NP_001369591.1:n.1248+180del
NM_001382662.3:c.1239+180del NP_001369591.2:n.1239+180del
ENST00000394893.5:c.1329del ENSP00000378355.1:p.Ile444SerfsTer?
ENST00000412064.6:c.*109-922del ENSP00000404731.2:n.*109-922del
ENST00000439269.1:c.543del ENSP00000412490.1:p.Ile182SerfsTer?
ENST00000447222.5:c.1480del
ENST00000454934.5:c.*634del ENSP00000414263.1:n.*634del
ENST00000461988.5:c.1329del ENSP00000419970.1:p.Ile444SerfsTer?
ENST00000475509.2:c.1104del ENSP00000516446.1:p.Ile369SerfsTer?
ENST00000487247.5:n.684del
ENST00000495770.1:n.331del
ENST00000496888.5:n.703del
ENST00000706544.1:c.1230del ENSP00000516442.1:p.Ile411SerfsTer?
ENST00000706545.1:c.1329del ENSP00000516443.1:p.Ile444SerfsTer?
ENST00000706546.1:c.1329del ENSP00000516444.1:p.Ile444SerfsTer?
ENST00000706547.1:c.1329del ENSP00000516445.1:p.Ile444SerfsTer?