Canonical Allele Identifier: CA575786046

Gene: POR

Linked Data

• dbSNP Id: rs1563433871
• gnomAD v2: 7-75614092-CAG-C
• gnomAD v4: 7-75984774-CAG-C
• MyVariant Identifiers: chr7:g.75614093_75614094del (hg19) ; chr7:g.75984775_75984776del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984777_75984778del , CM000669.2:g.75984777_75984778del	GRCh38
NC_000007.13:g.75614095_75614096del , CM000669.1:g.75614095_75614096del	GRCh37
NC_000007.12:g.75452031_75452032del	NCBI36
NG_008930.1:g.74676_74677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.842_843del
ENST00000706544.1:c.968_969del
ENST00000706545.1:c.1067_1068del
ENST00000706546.1:c.1067_1068del
ENST00000706547.1:c.1067_1068del
ENST00000461988.6:c.1067_1068del
ENST00000394893.5:c.1067_1068del
ENST00000412064.6:c.*108+1141_*108+1142del	ENSP00000404731.2:n.*108+1141_*108+1142del
ENST00000439269.1:c.281_282del
ENST00000447222.5:c.1218_1219del
ENST00000454934.5:c.*372_*373del
ENST00000461988.5:c.1067_1068del
ENST00000487247.5:n.422_423del
ENST00000495770.1:n.69_70del
ENST00000496888.5:n.441_442del
NM_000941.2:c.1067_1068del
NM_000941.3:c.1067_1068del
NM_001367562.1:c.1067_1068del
NM_001382655.1:c.1121_1122del
NM_001382657.1:c.1067_1068del
NM_001382658.1:c.1067_1068del
NM_001382659.1:c.1067_1068del
NM_001382662.1:c.1067_1068del
NM_001367562.3:c.1058_1059del
NM_001382655.3:c.1112_1113del
NM_001382657.2:c.1058_1059del
NM_001382658.3:c.1058_1059del
NM_001382659.3:c.1058_1059del
NM_001382662.3:c.1058_1059del
NM_001395413.1:c.1058_1059del