Canonical Allele Identifier: CA2683381750

Gene: POR

Linked Data

• gnomAD v4: 7-75984699-GTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984702_75984766del , CM000669.2:g.75984702_75984766del	GRCh38
NC_000007.13:g.75614020_75614084del , CM000669.1:g.75614020_75614084del	GRCh37
NC_000007.12:g.75451956_75452020del	NCBI36
NG_008930.1:g.74601_74665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.842-75_842-11del	ENSP00000516446.1:n.842-75_842-11del
ENST00000706544.1:c.968-75_968-11del	ENSP00000516442.1:n.968-75_968-11del
ENST00000706545.1:c.1067-75_1067-11del	ENSP00000516443.1:n.1067-75_1067-11del
ENST00000706546.1:c.1067-75_1067-11del	ENSP00000516444.1:n.1067-75_1067-11del
ENST00000706547.1:c.1067-75_1067-11del	ENSP00000516445.1:n.1067-75_1067-11del
ENST00000461988.6:c.1067-75_1067-11del MANE Select	ENSP00000419970.1:n.1067-75_1067-11del
ENST00000394893.5:c.1067-75_1067-11del	ENSP00000378355.1:n.1067-75_1067-11del
ENST00000412064.6:c.*108+1066_*108+1130del	ENSP00000404731.2:n.*108+1066_*108+1130del
ENST00000439269.1:c.281-75_281-11del	ENSP00000412490.1:n.281-75_281-11del
ENST00000447222.5:c.1218-75_1218-11del
ENST00000454934.5:c.*372-75_*372-11del	ENSP00000414263.1:n.*372-75_*372-11del
ENST00000461988.5:c.1067-75_1067-11del	ENSP00000419970.1:n.1067-75_1067-11del
ENST00000487247.5:n.422-75_422-11del
ENST00000495770.1:n.69-75_69-11del
ENST00000496888.5:n.441-75_441-11del
NM_000941.2:c.1067-75_1067-11del	NP_000932.3:n.1067-75_1067-11del
NM_000941.3:c.1067-75_1067-11del	NP_000932.3:n.1067-75_1067-11del
NM_001367562.1:c.1067-75_1067-11del	NP_001354491.1:n.1067-75_1067-11del
NM_001382655.1:c.1121-75_1121-11del	NP_001369584.1:n.1121-75_1121-11del
NM_001382657.1:c.1067-75_1067-11del	NP_001369586.1:n.1067-75_1067-11del
NM_001382658.1:c.1067-75_1067-11del	NP_001369587.1:n.1067-75_1067-11del
NM_001382659.1:c.1067-75_1067-11del	NP_001369588.1:n.1067-75_1067-11del
NM_001382662.1:c.1067-75_1067-11del	NP_001369591.1:n.1067-75_1067-11del
NM_001367562.3:c.1058-75_1058-11del	NP_001354491.2:n.1058-75_1058-11del
NM_001382655.3:c.1112-75_1112-11del	NP_001369584.2:n.1112-75_1112-11del
NM_001382657.2:c.1058-75_1058-11del	NP_001369586.2:n.1058-75_1058-11del
NM_001382658.3:c.1058-75_1058-11del	NP_001369587.2:n.1058-75_1058-11del
NM_001382659.3:c.1058-75_1058-11del	NP_001369588.2:n.1058-75_1058-11del
NM_001382662.3:c.1058-75_1058-11del	NP_001369591.2:n.1058-75_1058-11del
NM_001395413.1:c.1058-75_1058-11del MANE Select	NP_001382342.1:n.1058-75_1058-11del