Canonical Allele Identifier: CA1718179864

Gene: POR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985001_75985018delinsCCGTTTTCCGAGCTCCGT , CM000669.2:g.75985001_75985018delinsCCGTTTTCCGAGCTCCGT	GRCh38
NC_000007.13:g.75614319_75614336delinsCCGTTTTCCGAGCTCCGT , CM000669.1:g.75614319_75614336delinsCCGTTTTCCGAGCTCCGT	GRCh37
NC_000007.12:g.75452255_75452272delinsCCGTTTTCCGAGCTCCGT	NCBI36
NG_008930.1:g.74900_74917delinsCCGTTTTCCGAGCTCCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1023+43_1024-40delinsCCGTTTTCCGAGCTCCGT	ENSP00000516446.1:n.1023+43_1024-40delinsCCGTTTTCCGAGCTCCGT
ENST00000706544.1:c.1149+43_1150-40delinsCCGTTTTCCGAGCTCCGT	ENSP00000516442.1:n.1149+43_1150-40delinsCCGTTTTCCGAGCTCCGT
ENST00000706545.1:c.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT	ENSP00000516443.1:n.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT
ENST00000706546.1:c.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT	ENSP00000516444.1:n.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT
ENST00000706547.1:c.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT	ENSP00000516445.1:n.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT
ENST00000461988.6:c.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT MANE Select	ENSP00000419970.1:n.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT
ENST00000394893.5:c.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT	ENSP00000378355.1:n.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT
ENST00000412064.6:c.*109-1059_*109-1042delinsCCGTTTTCCGAGCTCCGT	ENSP00000404731.2:n.*109-1059_*109-1042delinsCCGTTTTCCGAGCTCC...
ENST00000439269.1:c.462+43_463-40delinsCCGTTTTCCGAGCTCCGT	ENSP00000412490.1:n.462+43_463-40delinsCCGTTTTCCGAGCTCCGT
ENST00000447222.5:c.1399+43_1400-40delinsCCGTTTTCCGAGCTCCGT
ENST00000454934.5:c.*553+43_*554-40delinsCCGTTTTCCGAGCTCCGT	ENSP00000414263.1:n.*553+43_*554-40delinsCCGTTTTCCGAGCTCCGT
ENST00000461988.5:c.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT	ENSP00000419970.1:n.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT
ENST00000487247.5:n.603+43_604-40delinsCCGTTTTCCGAGCTCCGT
ENST00000495770.1:n.250+43_251-40delinsCCGTTTTCCGAGCTCCGT
ENST00000496888.5:n.622+43_623-40delinsCCGTTTTCCGAGCTCCGT
NM_000941.2:c.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT	NP_000932.3:n.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT
NM_000941.3:c.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT	NP_000932.3:n.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT
NM_001367562.1:c.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT	NP_001354491.1:n.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT
NM_001382655.1:c.1302+43_1303-40delinsCCGTTTTCCGAGCTCCGT	NP_001369584.1:n.1302+43_1303-40delinsCCGTTTTCCGAGCTCCGT
NM_001382657.1:c.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT	NP_001369586.1:n.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT
NM_001382658.1:c.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT	NP_001369587.1:n.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT
NM_001382659.1:c.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT	NP_001369588.1:n.1248+43_1249-40delinsCCGTTTTCCGAGCTCCGT
NM_001382662.1:c.1248+43_1248+60delinsCCGTTTTCCGAGCTCCGT	NP_001369591.1:n.1248+43_1248+60delinsCCGTTTTCCGAGCTCCGT
NM_001367562.3:c.1239+43_1240-40delinsCCGTTTTCCGAGCTCCGT	NP_001354491.2:n.1239+43_1240-40delinsCCGTTTTCCGAGCTCCGT
NM_001382655.3:c.1293+43_1294-40delinsCCGTTTTCCGAGCTCCGT	NP_001369584.2:n.1293+43_1294-40delinsCCGTTTTCCGAGCTCCGT
NM_001382657.2:c.1239+43_1240-40delinsCCGTTTTCCGAGCTCCGT	NP_001369586.2:n.1239+43_1240-40delinsCCGTTTTCCGAGCTCCGT
NM_001382658.3:c.1239+43_1240-40delinsCCGTTTTCCGAGCTCCGT	NP_001369587.2:n.1239+43_1240-40delinsCCGTTTTCCGAGCTCCGT
NM_001382659.3:c.1239+43_1240-40delinsCCGTTTTCCGAGCTCCGT	NP_001369588.2:n.1239+43_1240-40delinsCCGTTTTCCGAGCTCCGT
NM_001382662.3:c.1239+43_1239+60delinsCCGTTTTCCGAGCTCCGT	NP_001369591.2:n.1239+43_1239+60delinsCCGTTTTCCGAGCTCCGT
NM_001395413.1:c.1239+43_1240-40delinsCCGTTTTCCGAGCTCCGT MANE Select	NP_001382342.1:n.1239+43_1240-40delinsCCGTTTTCCGAGCTCCGT