Canonical Allele Identifier: CA575786072

Gene: POR

Linked Data

• dbSNP Id: rs1554558849
• gnomAD v2: 7-75614319-CCGTTTTCCGAGCTCCGT-C
• gnomAD v3: 7-75985001-CCGTTTTCCGAGCTCCGT-C
• gnomAD v4: 7-75985001-CCGTTTTCCGAGCTCCGT-C
• MyVariant Identifiers: chr7:g.75614320_75614336del (hg19) ; chr7:g.75985002_75985018del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985002_75985018del , CM000669.2:g.75985002_75985018del	GRCh38
NC_000007.13:g.75614320_75614336del , CM000669.1:g.75614320_75614336del	GRCh37
NC_000007.12:g.75452256_75452272del	NCBI36
NG_008930.1:g.74901_74917del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1023+44_1024-40del	ENSP00000516446.1:n.1023+44_1024-40del
ENST00000706544.1:c.1149+44_1150-40del	ENSP00000516442.1:n.1149+44_1150-40del
ENST00000706545.1:c.1248+44_1249-40del	ENSP00000516443.1:n.1248+44_1249-40del
ENST00000706546.1:c.1248+44_1249-40del	ENSP00000516444.1:n.1248+44_1249-40del
ENST00000706547.1:c.1248+44_1249-40del	ENSP00000516445.1:n.1248+44_1249-40del
ENST00000461988.6:c.1248+44_1249-40del MANE Select	ENSP00000419970.1:n.1248+44_1249-40del
ENST00000394893.5:c.1248+44_1249-40del	ENSP00000378355.1:n.1248+44_1249-40del
ENST00000412064.6:c.*109-1058_*109-1042del	ENSP00000404731.2:n.*109-1058_*109-1042del
ENST00000439269.1:c.462+44_463-40del	ENSP00000412490.1:n.462+44_463-40del
ENST00000447222.5:c.1399+44_1400-40del
ENST00000454934.5:c.*553+44_*554-40del	ENSP00000414263.1:n.*553+44_*554-40del
ENST00000461988.5:c.1248+44_1249-40del	ENSP00000419970.1:n.1248+44_1249-40del
ENST00000487247.5:n.603+44_604-40del
ENST00000495770.1:n.250+44_251-40del
ENST00000496888.5:n.622+44_623-40del
NM_000941.2:c.1248+44_1249-40del	NP_000932.3:n.1248+44_1249-40del
NM_000941.3:c.1248+44_1249-40del	NP_000932.3:n.1248+44_1249-40del
NM_001367562.1:c.1248+44_1249-40del	NP_001354491.1:n.1248+44_1249-40del
NM_001382655.1:c.1302+44_1303-40del	NP_001369584.1:n.1302+44_1303-40del
NM_001382657.1:c.1248+44_1249-40del	NP_001369586.1:n.1248+44_1249-40del
NM_001382658.1:c.1248+44_1249-40del	NP_001369587.1:n.1248+44_1249-40del
NM_001382659.1:c.1248+44_1249-40del	NP_001369588.1:n.1248+44_1249-40del
NM_001382662.1:c.1248+44_1248+60del	NP_001369591.1:n.1248+44_1248+60del
NM_001367562.3:c.1239+44_1240-40del	NP_001354491.2:n.1239+44_1240-40del
NM_001382655.3:c.1293+44_1294-40del	NP_001369584.2:n.1293+44_1294-40del
NM_001382657.2:c.1239+44_1240-40del	NP_001369586.2:n.1239+44_1240-40del
NM_001382658.3:c.1239+44_1240-40del	NP_001369587.2:n.1239+44_1240-40del
NM_001382659.3:c.1239+44_1240-40del	NP_001369588.2:n.1239+44_1240-40del
NM_001382662.3:c.1239+44_1239+60del	NP_001369591.2:n.1239+44_1239+60del
NM_001395413.1:c.1239+44_1240-40del MANE Select	NP_001382342.1:n.1239+44_1240-40del