Canonical Allele Identifier: CA1103270147

Gene: POR

Linked Data

• dbSNP Id: rs1789328792
• gnomAD v3: 7-75984994-CACCCCGCCGTTTTCCGAGCTCCGTG-C
• gnomAD v4: 7-75984994-CACCCCGCCGTTTTCCGAGCTCCGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984995_75985019del , CM000669.2:g.75984995_75985019del	GRCh38
NC_000007.13:g.75614313_75614337del , CM000669.1:g.75614313_75614337del	GRCh37
NC_000007.12:g.75452249_75452273del	NCBI36
NG_008930.1:g.74894_74918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1023+37_1024-39del	ENSP00000516446.1:n.1023+37_1024-39del
ENST00000706544.1:c.1149+37_1150-39del	ENSP00000516442.1:n.1149+37_1150-39del
ENST00000706545.1:c.1248+37_1249-39del	ENSP00000516443.1:n.1248+37_1249-39del
ENST00000706546.1:c.1248+37_1249-39del	ENSP00000516444.1:n.1248+37_1249-39del
ENST00000706547.1:c.1248+37_1249-39del	ENSP00000516445.1:n.1248+37_1249-39del
ENST00000461988.6:c.1248+37_1249-39del MANE Select	ENSP00000419970.1:n.1248+37_1249-39del
ENST00000394893.5:c.1248+37_1249-39del	ENSP00000378355.1:n.1248+37_1249-39del
ENST00000412064.6:c.*109-1065_*109-1041del	ENSP00000404731.2:n.*109-1065_*109-1041del
ENST00000439269.1:c.462+37_463-39del	ENSP00000412490.1:n.462+37_463-39del
ENST00000447222.5:c.1399+37_1400-39del
ENST00000454934.5:c.*553+37_*554-39del	ENSP00000414263.1:n.*553+37_*554-39del
ENST00000461988.5:c.1248+37_1249-39del	ENSP00000419970.1:n.1248+37_1249-39del
ENST00000487247.5:n.603+37_604-39del
ENST00000495770.1:n.250+37_251-39del
ENST00000496888.5:n.622+37_623-39del
NM_000941.2:c.1248+37_1249-39del	NP_000932.3:n.1248+37_1249-39del
NM_000941.3:c.1248+37_1249-39del	NP_000932.3:n.1248+37_1249-39del
NM_001367562.1:c.1248+37_1249-39del	NP_001354491.1:n.1248+37_1249-39del
NM_001382655.1:c.1302+37_1303-39del	NP_001369584.1:n.1302+37_1303-39del
NM_001382657.1:c.1248+37_1249-39del	NP_001369586.1:n.1248+37_1249-39del
NM_001382658.1:c.1248+37_1249-39del	NP_001369587.1:n.1248+37_1249-39del
NM_001382659.1:c.1248+37_1249-39del	NP_001369588.1:n.1248+37_1249-39del
NM_001382662.1:c.1248+37_1248+61del	NP_001369591.1:n.1248+37_1248+61del
NM_001367562.3:c.1239+37_1240-39del	NP_001354491.2:n.1239+37_1240-39del
NM_001382655.3:c.1293+37_1294-39del	NP_001369584.2:n.1293+37_1294-39del
NM_001382657.2:c.1239+37_1240-39del	NP_001369586.2:n.1239+37_1240-39del
NM_001382658.3:c.1239+37_1240-39del	NP_001369587.2:n.1239+37_1240-39del
NM_001382659.3:c.1239+37_1240-39del	NP_001369588.2:n.1239+37_1240-39del
NM_001382662.3:c.1239+37_1239+61del	NP_001369591.2:n.1239+37_1239+61del
NM_001395413.1:c.1239+37_1240-39del MANE Select	NP_001382342.1:n.1239+37_1240-39del