Canonical Allele Identifier: CA2683381861

Gene: POR

Linked Data

• gnomAD v4: 7-75984935-GCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984944_75984946del , CM000669.2:g.75984944_75984946del	GRCh38
NC_000007.13:g.75614262_75614264del , CM000669.1:g.75614262_75614264del	GRCh37
NC_000007.12:g.75452198_75452200del	NCBI36
NG_008930.1:g.74843_74845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1009_1011del	ENSP00000516446.1:p.Ser337del
ENST00000706544.1:c.1135_1137del	ENSP00000516442.1:p.Ser379del
ENST00000706545.1:c.1234_1236del	ENSP00000516443.1:p.Ser412del
ENST00000706546.1:c.1234_1236del	ENSP00000516444.1:p.Ser412del
ENST00000706547.1:c.1234_1236del	ENSP00000516445.1:p.Ser412del
ENST00000461988.6:c.1234_1236del MANE Select	ENSP00000419970.1:p.Ser412del
ENST00000394893.5:c.1234_1236del	ENSP00000378355.1:p.Ser412del
ENST00000412064.6:c.*109-1116_*109-1114del	ENSP00000404731.2:n.*109-1116_*109-1114del
ENST00000439269.1:c.448_450del	ENSP00000412490.1:p.Ser150del
ENST00000447222.5:c.1385_1387del
ENST00000454934.5:c.*539_*541del	ENSP00000414263.1:n.*539_*541del
ENST00000461988.5:c.1234_1236del	ENSP00000419970.1:p.Ser412del
ENST00000487247.5:n.589_591del
ENST00000495770.1:n.236_238del
ENST00000496888.5:n.608_610del
NM_000941.2:c.1234_1236del	NP_000932.3:p.Ser412del
NM_000941.3:c.1234_1236del	NP_000932.3:p.Ser412del
NM_001367562.1:c.1234_1236del	NP_001354491.1:p.Ser412del
NM_001382655.1:c.1288_1290del	NP_001369584.1:p.Ser430del
NM_001382657.1:c.1234_1236del	NP_001369586.1:p.Ser412del
NM_001382658.1:c.1234_1236del	NP_001369587.1:p.Ser412del
NM_001382659.1:c.1234_1236del	NP_001369588.1:p.Ser412del
NM_001382662.1:c.1234_1236del	NP_001369591.1:p.Ser412del
NM_001367562.3:c.1225_1227del	NP_001354491.2:p.Ser409del
NM_001382655.3:c.1279_1281del	NP_001369584.2:p.Ser427del
NM_001382657.2:c.1225_1227del	NP_001369586.2:p.Ser409del
NM_001382658.3:c.1225_1227del	NP_001369587.2:p.Ser409del
NM_001382659.3:c.1225_1227del	NP_001369588.2:p.Ser409del
NM_001382662.3:c.1225_1227del	NP_001369591.2:p.Ser409del
NM_001395413.1:c.1225_1227del MANE Select	NP_001382342.1:p.Ser409del