Canonical Allele Identifier: CA2550200641

Gene: POR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984966_75984967insGCGG , CM000669.2:g.75984966_75984967insGCGG	GRCh38
NC_000007.13:g.75614284_75614285insGCGG , CM000669.1:g.75614284_75614285insGCGG	GRCh37
NC_000007.12:g.75452220_75452221insGCGG	NCBI36
NG_008930.1:g.74865_74866insGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1023+8_1023+9insGCGG	ENSP00000516446.1:n.1023+8_1023+9insGCGG
ENST00000706544.1:c.1149+8_1149+9insGCGG	ENSP00000516442.1:n.1149+8_1149+9insGCGG
ENST00000706545.1:c.1248+8_1248+9insGCGG	ENSP00000516443.1:n.1248+8_1248+9insGCGG
ENST00000706546.1:c.1248+8_1248+9insGCGG	ENSP00000516444.1:n.1248+8_1248+9insGCGG
ENST00000706547.1:c.1248+8_1248+9insGCGG	ENSP00000516445.1:n.1248+8_1248+9insGCGG
ENST00000461988.6:c.1248+8_1248+9insGCGG MANE Select	ENSP00000419970.1:n.1248+8_1248+9insGCGG
ENST00000394893.5:c.1248+8_1248+9insGCGG	ENSP00000378355.1:n.1248+8_1248+9insGCGG
ENST00000412064.6:c.*109-1094_*109-1093insGCGG	ENSP00000404731.2:n.*109-1094_*109-1093insGCGG
ENST00000439269.1:c.462+8_462+9insGCGG	ENSP00000412490.1:n.462+8_462+9insGCGG
ENST00000447222.5:c.1399+8_1399+9insGCGG
ENST00000454934.5:c.*553+8_*553+9insGCGG	ENSP00000414263.1:n.*553+8_*553+9insGCGG
ENST00000461988.5:c.1248+8_1248+9insGCGG	ENSP00000419970.1:n.1248+8_1248+9insGCGG
ENST00000487247.5:n.603+8_603+9insGCGG
ENST00000495770.1:n.250+8_250+9insGCGG
ENST00000496888.5:n.622+8_622+9insGCGG
NM_000941.2:c.1248+8_1248+9insGCGG	NP_000932.3:n.1248+8_1248+9insGCGG
NM_000941.3:c.1248+8_1248+9insGCGG	NP_000932.3:n.1248+8_1248+9insGCGG
NM_001367562.1:c.1248+8_1248+9insGCGG	NP_001354491.1:n.1248+8_1248+9insGCGG
NM_001382655.1:c.1302+8_1302+9insGCGG	NP_001369584.1:n.1302+8_1302+9insGCGG
NM_001382657.1:c.1248+8_1248+9insGCGG	NP_001369586.1:n.1248+8_1248+9insGCGG
NM_001382658.1:c.1248+8_1248+9insGCGG	NP_001369587.1:n.1248+8_1248+9insGCGG
NM_001382659.1:c.1248+8_1248+9insGCGG	NP_001369588.1:n.1248+8_1248+9insGCGG
NM_001382662.1:c.1248+8_1248+9insGCGG	NP_001369591.1:n.1248+8_1248+9insGCGG
NM_001367562.3:c.1239+8_1239+9insGCGG	NP_001354491.2:n.1239+8_1239+9insGCGG
NM_001382655.3:c.1293+8_1293+9insGCGG	NP_001369584.2:n.1293+8_1293+9insGCGG
NM_001382657.2:c.1239+8_1239+9insGCGG	NP_001369586.2:n.1239+8_1239+9insGCGG
NM_001382658.3:c.1239+8_1239+9insGCGG	NP_001369587.2:n.1239+8_1239+9insGCGG
NM_001382659.3:c.1239+8_1239+9insGCGG	NP_001369588.2:n.1239+8_1239+9insGCGG
NM_001382662.3:c.1239+8_1239+9insGCGG	NP_001369591.2:n.1239+8_1239+9insGCGG
NM_001395413.1:c.1239+8_1239+9insGCGG MANE Select	NP_001382342.1:n.1239+8_1239+9insGCGG