Canonical Allele Identifier: CA2825001571

Gene: POR

Linked Data

• ClinVar Variation Id: 3068964
• ClinVar RCV Id: RCV003995024

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75979557del , CM000669.2:g.75979557del	GRCh38
NC_000007.13:g.75608875del , CM000669.1:g.75608875del	GRCh37
NC_000007.12:g.75446811del	NCBI36
NG_008930.1:g.69456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.119del	ENSP00000516446.1:p.Ala40GlyfsTer11
ENST00000706544.1:c.344del	ENSP00000516442.1:p.Ala115GlyfsTer11
ENST00000706545.1:c.344del	ENSP00000516443.1:p.Ala115GlyfsTer11
ENST00000706546.1:c.344del	ENSP00000516444.1:p.Ala115GlyfsTer11
ENST00000706547.1:c.344del	ENSP00000516445.1:p.Ala115GlyfsTer11
ENST00000461988.6:c.344del MANE Select	ENSP00000419970.1:p.Ala115GlyfsTer11
ENST00000394893.5:c.344del	ENSP00000378355.1:p.Ala115GlyfsTer11
ENST00000412064.6:c.344del	ENSP00000404731.2:p.Ala115GlyfsTer11
ENST00000412521.5:c.344del	ENSP00000409238.1:p.Ala115GlyfsTer11
ENST00000414186.5:c.344del	ENSP00000399327.1:p.Ala115GlyfsTer11
ENST00000426184.1:c.203del	ENSP00000400964.1:p.Ala68GlyfsTer11
ENST00000432753.5:c.344del	ENSP00000389409.1:p.Ala115GlyfsTer11
ENST00000439963.5:c.344del	ENSP00000390540.1:p.Ala115GlyfsTer11
ENST00000447222.5:c.261del
ENST00000448410.5:c.*341del	ENSP00000399409.1:n.*341del
ENST00000453773.5:c.344del	ENSP00000395813.1:p.Ala115GlyfsTer11
ENST00000454934.5:c.344del	ENSP00000414263.1:p.Ala115GlyfsTer11
ENST00000461988.5:c.344del	ENSP00000419970.1:p.Ala115GlyfsTer11
ENST00000471238.5:n.371del
ENST00000475509.1:n.546del
NM_000941.2:c.344del	NP_000932.3:p.Ala115GlyfsTer11
NM_000941.3:c.344del	NP_000932.3:p.Ala115GlyfsTer11
NM_001367562.1:c.344del	NP_001354491.1:p.Ala115GlyfsTer11
NM_001382655.1:c.398del	NP_001369584.1:p.Ala133GlyfsTer11
NM_001382657.1:c.344del	NP_001369586.1:p.Ala115GlyfsTer11
NM_001382658.1:c.344del	NP_001369587.1:p.Ala115GlyfsTer11
NM_001382659.1:c.344del	NP_001369588.1:p.Ala115GlyfsTer11
NM_001382662.1:c.344del	NP_001369591.1:p.Ala115GlyfsTer11
NM_001367562.3:c.335del	NP_001354491.2:p.Ala112GlyfsTer11
NM_001382655.3:c.389del	NP_001369584.2:p.Ala130GlyfsTer11
NM_001382657.2:c.335del	NP_001369586.2:p.Ala112GlyfsTer11
NM_001382658.3:c.335del	NP_001369587.2:p.Ala112GlyfsTer11
NM_001382659.3:c.335del	NP_001369588.2:p.Ala112GlyfsTer11
NM_001382662.3:c.335del	NP_001369591.2:p.Ala112GlyfsTer11
NM_001395413.1:c.335del MANE Select	NP_001382342.1:p.Ala112GlyfsTer11