Canonical Allele Identifier: CA4304016

Gene: POR

Linked Data

• ClinVar Variation Id: 2735034
• ClinVar RCV Id: RCV003518763
• dbSNP Id: rs782700768
• ExAC: 7:75614214 GCCTCGGAGC / G
• gnomAD v2: 7-75614214-GCCTCGGAGC-G
• gnomAD v3: 7-75984896-GCCTCGGAGC-G
• gnomAD v4: 7-75984896-GCCTCGGAGC-G
• MyVariant Identifiers: chr7:g.75614215_75614223del (hg19) ; chr7:g.75984897_75984905del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984906_75984914del , CM000669.2:g.75984906_75984914del	GRCh38
NC_000007.13:g.75614224_75614232del , CM000669.1:g.75614224_75614232del	GRCh37
NC_000007.12:g.75452160_75452168del	NCBI36
NG_008930.1:g.74805_74813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.971_979del	ENSP00000516446.1:p.Pro324_Glu326del
ENST00000706544.1:c.1097_1105del	ENSP00000516442.1:p.Pro366_Glu368del
ENST00000706545.1:c.1196_1204del	ENSP00000516443.1:p.Pro399_Glu401del
ENST00000706546.1:c.1196_1204del	ENSP00000516444.1:p.Pro399_Glu401del
ENST00000706547.1:c.1196_1204del	ENSP00000516445.1:p.Pro399_Glu401del
ENST00000461988.6:c.1196_1204del MANE Select	ENSP00000419970.1:p.Pro399_Glu401del
ENST00000394893.5:c.1196_1204del	ENSP00000378355.1:p.Pro399_Glu401del
ENST00000412064.6:c.*109-1154_*109-1146del	ENSP00000404731.2:n.*109-1154_*109-1146del
ENST00000439269.1:c.410_418del	ENSP00000412490.1:p.Pro137_Glu139del
ENST00000447222.5:c.1347_1355del
ENST00000454934.5:c.*501_*509del	ENSP00000414263.1:n.*501_*509del
ENST00000461988.5:c.1196_1204del	ENSP00000419970.1:p.Pro399_Glu401del
ENST00000487247.5:n.551_559del
ENST00000495770.1:n.198_206del
ENST00000496888.5:n.570_578del
NM_000941.2:c.1196_1204del	NP_000932.3:p.Pro399_Glu401del
NM_000941.3:c.1196_1204del	NP_000932.3:p.Pro399_Glu401del
NM_001367562.1:c.1196_1204del	NP_001354491.1:p.Pro399_Glu401del
NM_001382655.1:c.1250_1258del	NP_001369584.1:p.Pro417_Glu419del
NM_001382657.1:c.1196_1204del	NP_001369586.1:p.Pro399_Glu401del
NM_001382658.1:c.1196_1204del	NP_001369587.1:p.Pro399_Glu401del
NM_001382659.1:c.1196_1204del	NP_001369588.1:p.Pro399_Glu401del
NM_001382662.1:c.1196_1204del	NP_001369591.1:p.Pro399_Glu401del
NM_001367562.3:c.1187_1195del	NP_001354491.2:p.Pro396_Glu398del
NM_001382655.3:c.1241_1249del	NP_001369584.2:p.Pro414_Glu416del
NM_001382657.2:c.1187_1195del	NP_001369586.2:p.Pro396_Glu398del
NM_001382658.3:c.1187_1195del	NP_001369587.2:p.Pro396_Glu398del
NM_001382659.3:c.1187_1195del	NP_001369588.2:p.Pro396_Glu398del
NM_001382662.3:c.1187_1195del	NP_001369591.2:p.Pro396_Glu398del
NM_001395413.1:c.1187_1195del MANE Select	NP_001382342.1:p.Pro396_Glu398del