Canonical Allele Identifier: CA918049881

Gene: POR

Linked Data

• dbSNP Id: rs1563434202
• gnomAD v4: 7-75984954-G-GCAAGGTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984955_75984962dup , CM000669.2:g.75984955_75984962dup	GRCh38
NC_000007.13:g.75614273_75614280dup , CM000669.1:g.75614273_75614280dup	GRCh37
NC_000007.12:g.75452209_75452216dup	NCBI36
NG_008930.1:g.74854_74861dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1020_1023+4dup
ENST00000706544.1:c.1146_1149+4dup
ENST00000706545.1:c.1245_1248+4dup
ENST00000706546.1:c.1245_1248+4dup
ENST00000706547.1:c.1245_1248+4dup
ENST00000461988.6:c.1245_1248+4dup
ENST00000394893.5:c.1245_1248+4dup
ENST00000412064.6:c.*109-1105_*109-1098dup	ENSP00000404731.2:n.*109-1105_*109-1098dup
ENST00000439269.1:c.459_462+4dup
ENST00000447222.5:c.1396_1399+4dup
ENST00000454934.5:c.*550_*553+4dup
ENST00000461988.5:c.1245_1248+4dup
ENST00000487247.5:n.600_603+4dup
ENST00000495770.1:n.247_250+4dup
ENST00000496888.5:n.619_622+4dup
NM_000941.2:c.1245_1248+4dup
NM_000941.3:c.1245_1248+4dup
NM_001367562.1:c.1245_1248+4dup
NM_001382655.1:c.1299_1302+4dup
NM_001382657.1:c.1245_1248+4dup
NM_001382658.1:c.1245_1248+4dup
NM_001382659.1:c.1245_1248+4dup
NM_001382662.1:c.1245_1248+4dup
NM_001367562.3:c.1236_1239+4dup
NM_001382655.3:c.1290_1293+4dup
NM_001382657.2:c.1236_1239+4dup
NM_001382658.3:c.1236_1239+4dup
NM_001382659.3:c.1236_1239+4dup
NM_001382662.3:c.1236_1239+4dup
NM_001395413.1:c.1236_1239+4dup