Canonical Allele Identifier: CA842281017

Gene: POR

Linked Data

• dbSNP Id: rs1236234261
• gnomAD v3: 7-75984608-CTT-C
• gnomAD v4: 7-75984608-CTT-C
• MyVariant Identifiers: chr7:g.75984609_75984610del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984609_75984610del , CM000669.2:g.75984609_75984610del	GRCh38
NC_000007.13:g.75613927_75613928del , CM000669.1:g.75613927_75613928del	GRCh37
NC_000007.12:g.75451863_75451864del	NCBI36
NG_008930.1:g.74508_74509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.842-168_842-167del	ENSP00000516446.1:n.842-168_842-167del
ENST00000706544.1:c.968-168_968-167del	ENSP00000516442.1:n.968-168_968-167del
ENST00000706545.1:c.1067-168_1067-167del	ENSP00000516443.1:n.1067-168_1067-167del
ENST00000706546.1:c.1067-168_1067-167del	ENSP00000516444.1:n.1067-168_1067-167del
ENST00000706547.1:c.1067-168_1067-167del	ENSP00000516445.1:n.1067-168_1067-167del
ENST00000461988.6:c.1067-168_1067-167del MANE Select	ENSP00000419970.1:n.1067-168_1067-167del
ENST00000394893.5:c.1067-168_1067-167del	ENSP00000378355.1:n.1067-168_1067-167del
ENST00000412064.6:c.*108+973_*108+974del	ENSP00000404731.2:n.*108+973_*108+974del
ENST00000439269.1:c.281-168_281-167del	ENSP00000412490.1:n.281-168_281-167del
ENST00000447222.5:c.1218-168_1218-167del
ENST00000454934.5:c.*372-168_*372-167del	ENSP00000414263.1:n.*372-168_*372-167del
ENST00000461988.5:c.1067-168_1067-167del	ENSP00000419970.1:n.1067-168_1067-167del
ENST00000487247.5:n.422-168_422-167del
ENST00000495770.1:n.69-168_69-167del
ENST00000496888.5:n.441-168_441-167del
NM_000941.2:c.1067-168_1067-167del	NP_000932.3:n.1067-168_1067-167del
NM_000941.3:c.1067-168_1067-167del	NP_000932.3:n.1067-168_1067-167del
NM_001367562.1:c.1067-168_1067-167del	NP_001354491.1:n.1067-168_1067-167del
NM_001382655.1:c.1121-168_1121-167del	NP_001369584.1:n.1121-168_1121-167del
NM_001382657.1:c.1067-168_1067-167del	NP_001369586.1:n.1067-168_1067-167del
NM_001382658.1:c.1067-168_1067-167del	NP_001369587.1:n.1067-168_1067-167del
NM_001382659.1:c.1067-168_1067-167del	NP_001369588.1:n.1067-168_1067-167del
NM_001382662.1:c.1067-168_1067-167del	NP_001369591.1:n.1067-168_1067-167del
NM_001367562.3:c.1058-168_1058-167del	NP_001354491.2:n.1058-168_1058-167del
NM_001382655.3:c.1112-168_1112-167del	NP_001369584.2:n.1112-168_1112-167del
NM_001382657.2:c.1058-168_1058-167del	NP_001369586.2:n.1058-168_1058-167del
NM_001382658.3:c.1058-168_1058-167del	NP_001369587.2:n.1058-168_1058-167del
NM_001382659.3:c.1058-168_1058-167del	NP_001369588.2:n.1058-168_1058-167del
NM_001382662.3:c.1058-168_1058-167del	NP_001369591.2:n.1058-168_1058-167del
NM_001395413.1:c.1058-168_1058-167del MANE Select	NP_001382342.1:n.1058-168_1058-167del