Canonical Allele Identifier: CA2776541593

Gene: POR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984960_75985058del , CM000669.2:g.75984960_75985058del	GRCh38
NC_000007.13:g.75614278_75614376del , CM000669.1:g.75614278_75614376del	GRCh37
NC_000007.12:g.75452214_75452312del	NCBI36
NG_008930.1:g.74859_74957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1023+2_1024del
ENST00000706544.1:c.1149+2_1150del
ENST00000706545.1:c.1248+2_1249del
ENST00000706546.1:c.1248+2_1249del
ENST00000706547.1:c.1248+2_1249del
ENST00000461988.6:c.1248+2_1249del
ENST00000394893.5:c.1248+2_1249del
ENST00000412064.6:c.*109-1100_*109-1002del	ENSP00000404731.2:n.*109-1100_*109-1002del
ENST00000439269.1:c.462+2_463del
ENST00000447222.5:c.1399+2_1400del
ENST00000454934.5:c.*553+2_*554del
ENST00000461988.5:c.1248+2_1249del
ENST00000487247.5:n.603+2_604del
ENST00000495770.1:n.250+2_251del
ENST00000496888.5:n.622+2_623del
NM_000941.2:c.1248+2_1249del
NM_000941.3:c.1248+2_1249del
NM_001367562.1:c.1248+2_1249del
NM_001382655.1:c.1302+2_1303del
NM_001382657.1:c.1248+2_1249del
NM_001382658.1:c.1248+2_1249del
NM_001382659.1:c.1248+2_1249del
NM_001382662.1:c.1248+2_1248+100del
NM_001367562.3:c.1239+2_1240del
NM_001382655.3:c.1293+2_1294del
NM_001382657.2:c.1239+2_1240del
NM_001382658.3:c.1239+2_1240del
NM_001382659.3:c.1239+2_1240del
NM_001382662.3:c.1239+2_1239+100del
NM_001395413.1:c.1239+2_1240del