Canonical Allele Identifier: CA2683381920

Gene: POR

Linked Data

• gnomAD v4: 7-75985014-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985016del , CM000669.2:g.75985016del	GRCh38
NC_000007.13:g.75614334del , CM000669.1:g.75614334del	GRCh37
NC_000007.12:g.75452270del	NCBI36
NG_008930.1:g.74915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1024-42del	ENSP00000516446.1:n.1024-42del
ENST00000706544.1:c.1150-42del	ENSP00000516442.1:n.1150-42del
ENST00000706545.1:c.1249-42del	ENSP00000516443.1:n.1249-42del
ENST00000706546.1:c.1249-42del	ENSP00000516444.1:n.1249-42del
ENST00000706547.1:c.1249-42del	ENSP00000516445.1:n.1249-42del
ENST00000461988.6:c.1249-42del MANE Select	ENSP00000419970.1:n.1249-42del
ENST00000394893.5:c.1249-42del	ENSP00000378355.1:n.1249-42del
ENST00000412064.6:c.*109-1044del	ENSP00000404731.2:n.*109-1044del
ENST00000439269.1:c.463-42del	ENSP00000412490.1:n.463-42del
ENST00000447222.5:c.1400-42del
ENST00000454934.5:c.*554-42del	ENSP00000414263.1:n.*554-42del
ENST00000461988.5:c.1249-42del	ENSP00000419970.1:n.1249-42del
ENST00000487247.5:n.604-42del
ENST00000495770.1:n.251-42del
ENST00000496888.5:n.623-42del
NM_000941.2:c.1249-42del	NP_000932.3:n.1249-42del
NM_000941.3:c.1249-42del	NP_000932.3:n.1249-42del
NM_001367562.1:c.1249-42del	NP_001354491.1:n.1249-42del
NM_001382655.1:c.1303-42del	NP_001369584.1:n.1303-42del
NM_001382657.1:c.1249-42del	NP_001369586.1:n.1249-42del
NM_001382658.1:c.1249-42del	NP_001369587.1:n.1249-42del
NM_001382659.1:c.1249-42del	NP_001369588.1:n.1249-42del
NM_001382662.1:c.1248+58del	NP_001369591.1:n.1248+58del
NM_001367562.3:c.1240-42del	NP_001354491.2:n.1240-42del
NM_001382655.3:c.1294-42del	NP_001369584.2:n.1294-42del
NM_001382657.2:c.1240-42del	NP_001369586.2:n.1240-42del
NM_001382658.3:c.1240-42del	NP_001369587.2:n.1240-42del
NM_001382659.3:c.1240-42del	NP_001369588.2:n.1240-42del
NM_001382662.3:c.1239+58del	NP_001369591.2:n.1239+58del
NM_001395413.1:c.1240-42del MANE Select	NP_001382342.1:n.1240-42del