Canonical Allele Identifier: CA891842696

Gene: POR

Linked Data

• ClinVar Variation Id: 580516
• ClinVar RCV Id: RCV000704080
• dbSNP Id: rs1563435458
• gnomAD v3: 7-75985750-C-CCCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCGGGGT
• gnomAD v4: 7-75985750-C-CCCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCGGGGT
• MyVariant Identifiers: chr7:g.75615069_75615117dup (hg19) ; chr7:g.75985751_75985799dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985751_75985799dup , CM000669.2:g.75985751_75985799dup	GRCh38
NC_000007.13:g.75615069_75615117dup , CM000669.1:g.75615069_75615117dup	GRCh37
NC_000007.12:g.75453005_75453053dup	NCBI36
NG_008930.1:g.75650_75698dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1346_1394dup	ENSP00000516446.1:p.Ala466LeufsTer?
ENST00000706544.1:c.1472_1520dup	ENSP00000516442.1:p.Ala508LeufsTer?
ENST00000706545.1:c.1571_1619dup	ENSP00000516443.1:p.Ala541LeufsTer?
ENST00000706546.1:c.1571_1619dup	ENSP00000516444.1:p.Ala541LeufsTer?
ENST00000706547.1:c.1571_1619dup	ENSP00000516445.1:p.Ala541LeufsTer?
ENST00000461988.6:c.1571_1619dup MANE Select	ENSP00000419970.1:p.Ala541LeufsTer?
ENST00000394893.5:c.1571_1619dup	ENSP00000378355.1:p.Ala541LeufsTer?
ENST00000412064.6:c.*109-309_*109-261dup	ENSP00000404731.2:n.*109-309_*109-261dup
ENST00000439269.1:c.785_833dup	ENSP00000412490.1:p.Ala279LeufsTer?
ENST00000447222.5:c.1722_1770dup
ENST00000454934.5:c.*876_*924dup	ENSP00000414263.1:n.*876_*924dup
ENST00000461988.5:c.1571_1619dup	ENSP00000419970.1:p.Ala541LeufsTer?
ENST00000493973.1:n.182_230dup
NM_000941.2:c.1571_1619dup	NP_000932.3:p.Ala541LeufsTer?
NM_000941.3:c.1571_1619dup	NP_000932.3:p.Ala541LeufsTer?
NM_001367562.1:c.1571_1619dup	NP_001354491.1:p.Ala541LeufsTer?
NM_001382655.1:c.1625_1673dup	NP_001369584.1:p.Ala559LeufsTer?
NM_001382657.1:c.1571_1619dup	NP_001369586.1:p.Ala541LeufsTer?
NM_001382658.1:c.1571_1619dup	NP_001369587.1:p.Ala541LeufsTer?
NM_001382659.1:c.1571_1619dup	NP_001369588.1:p.Ala541LeufsTer?
NM_001382662.1:c.1421_1469dup	NP_001369591.1:p.Ala491LeufsTer?
NM_001367562.3:c.1562_1610dup	NP_001354491.2:p.Ala538LeufsTer?
NM_001382655.3:c.1616_1664dup	NP_001369584.2:p.Ala556LeufsTer?
NM_001382657.2:c.1562_1610dup	NP_001369586.2:p.Ala538LeufsTer?
NM_001382658.3:c.1562_1610dup	NP_001369587.2:p.Ala538LeufsTer?
NM_001382659.3:c.1562_1610dup	NP_001369588.2:p.Ala538LeufsTer?
NM_001382662.3:c.1412_1460dup	NP_001369591.2:p.Ala488LeufsTer?
NM_001395413.1:c.1562_1610dup MANE Select	NP_001382342.1:p.Ala538LeufsTer?