Canonical Allele Identifier: CA2683385832

Gene: POR

Linked Data

• gnomAD v4: 7-75986637-CCCCAGGCCAGGTGAGGTCCACCGGCCCCTGGCAGCACAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75986644_75986682del , CM000669.2:g.75986644_75986682del	GRCh38
NC_000007.13:g.75615962_75616000del , CM000669.1:g.75615962_75616000del	GRCh37
NC_000007.12:g.75453898_75453936del	NCBI36
NG_008930.1:g.76543_76581del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.*163_*201del	ENSP00000516446.1:n.*163_*201del
ENST00000706544.1:c.*163_*201del	ENSP00000516442.1:n.*163_*201del
ENST00000706545.1:c.*163_*201del	ENSP00000516443.1:n.*163_*201del
ENST00000706546.1:c.*163_*201del	ENSP00000516444.1:n.*163_*201del
ENST00000706547.1:c.*163_*201del	ENSP00000516445.1:n.*163_*201del
ENST00000461988.6:c.*163_*201del MANE Select	ENSP00000419970.1:n.*163_*201del
ENST00000394893.5:c.*399_*437del	ENSP00000378355.1:n.*399_*437del
ENST00000439269.1:c.*163_*201del	ENSP00000412490.1:n.*163_*201del
ENST00000454934.5:c.*1511_*1549del	ENSP00000414263.1:n.*1511_*1549del
ENST00000461988.5:c.*163_*201del	ENSP00000419970.1:n.*163_*201del
ENST00000493973.1:n.817_855del
NM_000941.2:c.*163_*201del	NP_000932.3:n.*163_*201del
NM_000941.3:c.*163_*201del	NP_000932.3:n.*163_*201del
NM_001367562.1:c.*163_*201del	NP_001354491.1:n.*163_*201del
NM_001382655.1:c.*163_*201del	NP_001369584.1:n.*163_*201del
NM_001382657.1:c.*163_*201del	NP_001369586.1:n.*163_*201del
NM_001382658.1:c.*163_*201del	NP_001369587.1:n.*163_*201del
NM_001382659.1:c.*163_*201del	NP_001369588.1:n.*163_*201del
NM_001382662.1:c.*163_*201del	NP_001369591.1:n.*163_*201del
NM_001367562.3:c.*163_*201del	NP_001354491.2:n.*163_*201del
NM_001382655.3:c.*163_*201del	NP_001369584.2:n.*163_*201del
NM_001382657.2:c.*163_*201del	NP_001369586.2:n.*163_*201del
NM_001382658.3:c.*163_*201del	NP_001369587.2:n.*163_*201del
NM_001382659.3:c.*163_*201del	NP_001369588.2:n.*163_*201del
NM_001382662.3:c.*163_*201del	NP_001369591.2:n.*163_*201del
NM_001395413.1:c.*163_*201del MANE Select	NP_001382342.1:n.*163_*201del