Canonical Allele Identifier: CA4304031

Gene: POR

Linked Data

• dbSNP Id: rs781898617
• ExAC: 7:75614253 G / GCCT
• gnomAD v2: 7-75614253-G-GCCT
• gnomAD v4: 7-75984935-G-GCCT
• MyVariant Identifiers: chr7:g.75614253_75614254insCCT (hg19) ; chr7:g.75984935_75984936insCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984944_75984946dup , CM000669.2:g.75984944_75984946dup	GRCh38
NC_000007.13:g.75614262_75614264dup , CM000669.1:g.75614262_75614264dup	GRCh37
NC_000007.12:g.75452198_75452200dup	NCBI36
NG_008930.1:g.74843_74845dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1009_1011dup	ENSP00000516446.1:p.Ser337_Gly338insSer
ENST00000706544.1:c.1135_1137dup	ENSP00000516442.1:p.Ser379_Gly380insSer
ENST00000706545.1:c.1234_1236dup	ENSP00000516443.1:p.Ser412_Gly413insSer
ENST00000706546.1:c.1234_1236dup	ENSP00000516444.1:p.Ser412_Gly413insSer
ENST00000706547.1:c.1234_1236dup	ENSP00000516445.1:p.Ser412_Gly413insSer
ENST00000461988.6:c.1234_1236dup MANE Select	ENSP00000419970.1:p.Ser412_Gly413insSer
ENST00000394893.5:c.1234_1236dup	ENSP00000378355.1:p.Ser412_Gly413insSer
ENST00000412064.6:c.*109-1116_*109-1114dup	ENSP00000404731.2:n.*109-1116_*109-1114dup
ENST00000439269.1:c.448_450dup	ENSP00000412490.1:p.Ser150_Gly151insSer
ENST00000447222.5:c.1385_1387dup
ENST00000454934.5:c.*539_*541dup	ENSP00000414263.1:n.*539_*541dup
ENST00000461988.5:c.1234_1236dup	ENSP00000419970.1:p.Ser412_Gly413insSer
ENST00000487247.5:n.589_591dup
ENST00000495770.1:n.236_238dup
ENST00000496888.5:n.608_610dup
NM_000941.2:c.1234_1236dup	NP_000932.3:p.Ser412_Gly413insSer
NM_000941.3:c.1234_1236dup	NP_000932.3:p.Ser412_Gly413insSer
NM_001367562.1:c.1234_1236dup	NP_001354491.1:p.Ser412_Gly413insSer
NM_001382655.1:c.1288_1290dup	NP_001369584.1:p.Ser430_Gly431insSer
NM_001382657.1:c.1234_1236dup	NP_001369586.1:p.Ser412_Gly413insSer
NM_001382658.1:c.1234_1236dup	NP_001369587.1:p.Ser412_Gly413insSer
NM_001382659.1:c.1234_1236dup	NP_001369588.1:p.Ser412_Gly413insSer
NM_001382662.1:c.1234_1236dup	NP_001369591.1:p.Ser412_Gly413insSer
NM_001367562.3:c.1225_1227dup	NP_001354491.2:p.Ser409_Gly410insSer
NM_001382655.3:c.1279_1281dup	NP_001369584.2:p.Ser427_Gly428insSer
NM_001382657.2:c.1225_1227dup	NP_001369586.2:p.Ser409_Gly410insSer
NM_001382658.3:c.1225_1227dup	NP_001369587.2:p.Ser409_Gly410insSer
NM_001382659.3:c.1225_1227dup	NP_001369588.2:p.Ser409_Gly410insSer
NM_001382662.3:c.1225_1227dup	NP_001369591.2:p.Ser409_Gly410insSer
NM_001395413.1:c.1225_1227dup MANE Select	NP_001382342.1:p.Ser409_Gly410insSer