Canonical Allele Identifier: CA4304223

Gene: POR

Linked Data

• dbSNP Id: rs782239158
• ExAC: 7:75615188 G / GA
• gnomAD v2: 7-75615188-G-GA
• gnomAD v4: 7-75985870-G-GA
• MyVariant Identifiers: chr7:g.75615188_75615189insA (hg19) ; chr7:g.75985870_75985871insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985871dup , CM000669.2:g.75985871dup	GRCh38
NC_000007.13:g.75615189dup , CM000669.1:g.75615189dup	GRCh37
NC_000007.12:g.75453125dup	NCBI36
NG_008930.1:g.75770dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1444+22dup	ENSP00000516446.1:n.1444+22dup
ENST00000706544.1:c.1570+22dup	ENSP00000516442.1:n.1570+22dup
ENST00000706545.1:c.1669+22dup	ENSP00000516443.1:n.1669+22dup
ENST00000706546.1:c.1669+22dup	ENSP00000516444.1:n.1669+22dup
ENST00000706547.1:c.1669+22dup	ENSP00000516445.1:n.1669+22dup
ENST00000461988.6:c.1669+22dup MANE Select	ENSP00000419970.1:n.1669+22dup
ENST00000394893.5:c.1669+22dup	ENSP00000378355.1:n.1669+22dup
ENST00000412064.6:c.*109-189dup	ENSP00000404731.2:n.*109-189dup
ENST00000439269.1:c.883+22dup	ENSP00000412490.1:n.883+22dup
ENST00000447222.5:c.1820+22dup
ENST00000454934.5:c.*974+22dup	ENSP00000414263.1:n.*974+22dup
ENST00000461988.5:c.1669+22dup	ENSP00000419970.1:n.1669+22dup
ENST00000493973.1:n.280+22dup
NM_000941.2:c.1669+22dup	NP_000932.3:n.1669+22dup
NM_000941.3:c.1669+22dup	NP_000932.3:n.1669+22dup
NM_001367562.1:c.1669+22dup	NP_001354491.1:n.1669+22dup
NM_001382655.1:c.1723+22dup	NP_001369584.1:n.1723+22dup
NM_001382657.1:c.1669+22dup	NP_001369586.1:n.1669+22dup
NM_001382658.1:c.1669+22dup	NP_001369587.1:n.1669+22dup
NM_001382659.1:c.1669+22dup	NP_001369588.1:n.1669+22dup
NM_001382662.1:c.1519+22dup	NP_001369591.1:n.1519+22dup
NM_001367562.3:c.1660+22dup	NP_001354491.2:n.1660+22dup
NM_001382655.3:c.1714+22dup	NP_001369584.2:n.1714+22dup
NM_001382657.2:c.1660+22dup	NP_001369586.2:n.1660+22dup
NM_001382658.3:c.1660+22dup	NP_001369587.2:n.1660+22dup
NM_001382659.3:c.1660+22dup	NP_001369588.2:n.1660+22dup
NM_001382662.3:c.1510+22dup	NP_001369591.2:n.1510+22dup
NM_001395413.1:c.1660+22dup MANE Select	NP_001382342.1:n.1660+22dup