Canonical Allele Identifier: CA2715177740
Gene: POR HGNC NCBI

Linked Data

dbSNP Id: rs2116621450

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75984725_75984726del , CM000669.2:g.75984725_75984726del GRCh38
NC_000007.13:g.75614043_75614044del , CM000669.1:g.75614043_75614044del GRCh37
NC_000007.12:g.75451979_75451980del NCBI36
NG_008930.1:g.74624_74625del

Transcript Alleles

HGVS Amino-acid Change
ENST00000475509.2:c.842-52_842-51del ENSP00000516446.1:n.842-52_842-51del
ENST00000706544.1:c.968-52_968-51del ENSP00000516442.1:n.968-52_968-51del
ENST00000706545.1:c.1067-52_1067-51del ENSP00000516443.1:n.1067-52_1067-51del
ENST00000706546.1:c.1067-52_1067-51del ENSP00000516444.1:n.1067-52_1067-51del
ENST00000706547.1:c.1067-52_1067-51del ENSP00000516445.1:n.1067-52_1067-51del
ENST00000461988.6:c.1067-52_1067-51del MANE Select ENSP00000419970.1:n.1067-52_1067-51del
ENST00000394893.5:c.1067-52_1067-51del ENSP00000378355.1:n.1067-52_1067-51del
ENST00000412064.6:c.*108+1089_*108+1090del ENSP00000404731.2:n.*108+1089_*108+1090del
ENST00000439269.1:c.281-52_281-51del ENSP00000412490.1:n.281-52_281-51del
ENST00000447222.5:c.1218-52_1218-51del
ENST00000454934.5:c.*372-52_*372-51del ENSP00000414263.1:n.*372-52_*372-51del
ENST00000461988.5:c.1067-52_1067-51del ENSP00000419970.1:n.1067-52_1067-51del
ENST00000487247.5:n.422-52_422-51del
ENST00000495770.1:n.69-52_69-51del
ENST00000496888.5:n.441-52_441-51del
NM_000941.2:c.1067-52_1067-51del NP_000932.3:n.1067-52_1067-51del
NM_000941.3:c.1067-52_1067-51del NP_000932.3:n.1067-52_1067-51del
NM_001367562.1:c.1067-52_1067-51del NP_001354491.1:n.1067-52_1067-51del
NM_001382655.1:c.1121-52_1121-51del NP_001369584.1:n.1121-52_1121-51del
NM_001382657.1:c.1067-52_1067-51del NP_001369586.1:n.1067-52_1067-51del
NM_001382658.1:c.1067-52_1067-51del NP_001369587.1:n.1067-52_1067-51del
NM_001382659.1:c.1067-52_1067-51del NP_001369588.1:n.1067-52_1067-51del
NM_001382662.1:c.1067-52_1067-51del NP_001369591.1:n.1067-52_1067-51del
NM_001367562.3:c.1058-52_1058-51del NP_001354491.2:n.1058-52_1058-51del
NM_001382655.3:c.1112-52_1112-51del NP_001369584.2:n.1112-52_1112-51del
NM_001382657.2:c.1058-52_1058-51del NP_001369586.2:n.1058-52_1058-51del
NM_001382658.3:c.1058-52_1058-51del NP_001369587.2:n.1058-52_1058-51del
NM_001382659.3:c.1058-52_1058-51del NP_001369588.2:n.1058-52_1058-51del
NM_001382662.3:c.1058-52_1058-51del NP_001369591.2:n.1058-52_1058-51del
NM_001395413.1:c.1058-52_1058-51del MANE Select NP_001382342.1:n.1058-52_1058-51del