Canonical Allele Identifier: CA257667

Gene: POR

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75986178_75986201del , CM000669.2:g.75986178_75986201del	GRCh38
NC_000007.13:g.75615496_75615519del , CM000669.1:g.75615496_75615519del	GRCh37
NC_000007.12:g.75453432_75453455del	NCBI36
NG_008930.1:g.76077_76100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1610_1633del	ENSP00000516446.1:p.Leu537_Trp545delinsArg
ENST00000706544.1:c.1736_1759del	ENSP00000516442.1:p.Leu579_Trp587delinsArg
ENST00000706545.1:c.1835_1858del	ENSP00000516443.1:p.Leu612_Trp620delinsArg
ENST00000706546.1:c.1835_1858del	ENSP00000516444.1:p.Leu612_Trp620delinsArg
ENST00000706547.1:c.1835_1858del	ENSP00000516445.1:p.Leu612_Trp620delinsArg
ENST00000461988.6:c.1835_1858del MANE Select	ENSP00000419970.1:p.Leu612_Trp620delinsArg
ENST00000394893.5:c.1835_1858del	ENSP00000378355.1:p.Leu612_Trp620delinsArg
ENST00000412064.6:c.*137_*160del	ENSP00000404731.2:n.*137_*160del
ENST00000439269.1:c.1049_1072del	ENSP00000412490.1:p.Leu350_Trp358delinsArg
ENST00000447222.5:c.1986_2009del
ENST00000454934.5:c.*1140_*1163del	ENSP00000414263.1:n.*1140_*1163del
ENST00000461988.5:c.1835_1858del	ENSP00000419970.1:p.Leu612_Trp620delinsArg
ENST00000493973.1:n.446_469del
NM_000941.2:c.1835_1858del	NP_000932.3:p.Leu612_Trp620delinsArg
NM_000941.3:c.1835_1858del	NP_000932.3:p.Leu612_Trp620delinsArg
NM_001367562.1:c.1835_1858del	NP_001354491.1:p.Leu612_Trp620delinsArg
NM_001382655.1:c.1889_1912del	NP_001369584.1:p.Leu630_Trp638delinsArg
NM_001382657.1:c.1835_1858del	NP_001369586.1:p.Leu612_Trp620delinsArg
NM_001382658.1:c.1835_1858del	NP_001369587.1:p.Leu612_Trp620delinsArg
NM_001382659.1:c.1835_1858del	NP_001369588.1:p.Leu612_Trp620delinsArg
NM_001382662.1:c.1685_1708del	NP_001369591.1:p.Leu562_Trp570delinsArg
NM_001367562.3:c.1826_1849del	NP_001354491.2:p.Leu609_Trp617delinsArg
NM_001382655.3:c.1880_1903del	NP_001369584.2:p.Leu627_Trp635delinsArg
NM_001382657.2:c.1826_1849del	NP_001369586.2:p.Leu609_Trp617delinsArg
NM_001382658.3:c.1826_1849del	NP_001369587.2:p.Leu609_Trp617delinsArg
NM_001382659.3:c.1826_1849del	NP_001369588.2:p.Leu609_Trp617delinsArg
NM_001382662.3:c.1676_1699del	NP_001369591.2:p.Leu559_Trp567delinsArg
NM_001395413.1:c.1826_1849del MANE Select	NP_001382342.1:p.Leu609_Trp617delinsArg