Canonical Allele Identifier: CA2683381825

Gene: POR

Linked Data

• ClinVar Variation Id: 2789815
• ClinVar RCV Id: RCV003631466
• gnomAD v4: 7-75984820-CCGCACGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984822_75984828del , CM000669.2:g.75984822_75984828del	GRCh38
NC_000007.13:g.75614140_75614146del , CM000669.1:g.75614140_75614146del	GRCh37
NC_000007.12:g.75452076_75452082del	NCBI36
NG_008930.1:g.74721_74727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.887_893del	ENSP00000516446.1:p.Arg296ProfsTer?
ENST00000706544.1:c.1013_1019del	ENSP00000516442.1:p.Arg338ProfsTer?
ENST00000706545.1:c.1112_1118del	ENSP00000516443.1:p.Arg371ProfsTer?
ENST00000706546.1:c.1112_1118del	ENSP00000516444.1:p.Arg371ProfsTer?
ENST00000706547.1:c.1112_1118del	ENSP00000516445.1:p.Arg371ProfsTer?
ENST00000461988.6:c.1112_1118del MANE Select	ENSP00000419970.1:p.Arg371ProfsTer?
ENST00000394893.5:c.1112_1118del	ENSP00000378355.1:p.Arg371ProfsTer?
ENST00000412064.6:c.*108+1186_*108+1192del	ENSP00000404731.2:n.*108+1186_*108+1192del
ENST00000439269.1:c.326_332del	ENSP00000412490.1:p.Arg109ProfsTer?
ENST00000447222.5:c.1263_1269del
ENST00000454934.5:c.*417_*423del	ENSP00000414263.1:n.*417_*423del
ENST00000461988.5:c.1112_1118del	ENSP00000419970.1:p.Arg371ProfsTer?
ENST00000487247.5:n.467_473del
ENST00000495770.1:n.114_120del
ENST00000496888.5:n.486_492del
NM_000941.2:c.1112_1118del	NP_000932.3:p.Arg371ProfsTer?
NM_000941.3:c.1112_1118del	NP_000932.3:p.Arg371ProfsTer?
NM_001367562.1:c.1112_1118del	NP_001354491.1:p.Arg371ProfsTer?
NM_001382655.1:c.1166_1172del	NP_001369584.1:p.Arg389ProfsTer?
NM_001382657.1:c.1112_1118del	NP_001369586.1:p.Arg371ProfsTer?
NM_001382658.1:c.1112_1118del	NP_001369587.1:p.Arg371ProfsTer?
NM_001382659.1:c.1112_1118del	NP_001369588.1:p.Arg371ProfsTer?
NM_001382662.1:c.1112_1118del	NP_001369591.1:p.Arg371ProfsTer?
NM_001367562.3:c.1103_1109del	NP_001354491.2:p.Arg368ProfsTer?
NM_001382655.3:c.1157_1163del	NP_001369584.2:p.Arg386ProfsTer?
NM_001382657.2:c.1103_1109del	NP_001369586.2:p.Arg368ProfsTer?
NM_001382658.3:c.1103_1109del	NP_001369587.2:p.Arg368ProfsTer?
NM_001382659.3:c.1103_1109del	NP_001369588.2:p.Arg368ProfsTer?
NM_001382662.3:c.1103_1109del	NP_001369591.2:p.Arg368ProfsTer?
NM_001395413.1:c.1103_1109del MANE Select	NP_001382342.1:p.Arg368ProfsTer?