Canonical Allele Identifier: CA2683385841

Gene: POR

Linked Data

• gnomAD v4: 7-75986645-C-CCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75986645_75986646insCAG , CM000669.2:g.75986645_75986646insCAG	GRCh38
NC_000007.13:g.75615963_75615964insCAG , CM000669.1:g.75615963_75615964insCAG	GRCh37
NC_000007.12:g.75453899_75453900insCAG	NCBI36
NG_008930.1:g.76544_76545insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.*164_*165insCAG	ENSP00000516446.1:n.*164_*165insCAG
ENST00000706544.1:c.*164_*165insCAG	ENSP00000516442.1:n.*164_*165insCAG
ENST00000706545.1:c.*164_*165insCAG	ENSP00000516443.1:n.*164_*165insCAG
ENST00000706546.1:c.*164_*165insCAG	ENSP00000516444.1:n.*164_*165insCAG
ENST00000706547.1:c.*164_*165insCAG	ENSP00000516445.1:n.*164_*165insCAG
ENST00000461988.6:c.*164_*165insCAG MANE Select	ENSP00000419970.1:n.*164_*165insCAG
ENST00000394893.5:c.*400_*401insCAG	ENSP00000378355.1:n.*400_*401insCAG
ENST00000439269.1:c.*164_*165insCAG	ENSP00000412490.1:n.*164_*165insCAG
ENST00000454934.5:c.*1512_*1513insCAG	ENSP00000414263.1:n.*1512_*1513insCAG
ENST00000461988.5:c.*164_*165insCAG	ENSP00000419970.1:n.*164_*165insCAG
ENST00000493973.1:n.818_819insCAG
NM_000941.2:c.*164_*165insCAG	NP_000932.3:n.*164_*165insCAG
NM_000941.3:c.*164_*165insCAG	NP_000932.3:n.*164_*165insCAG
NM_001367562.1:c.*164_*165insCAG	NP_001354491.1:n.*164_*165insCAG
NM_001382655.1:c.*164_*165insCAG	NP_001369584.1:n.*164_*165insCAG
NM_001382657.1:c.*164_*165insCAG	NP_001369586.1:n.*164_*165insCAG
NM_001382658.1:c.*164_*165insCAG	NP_001369587.1:n.*164_*165insCAG
NM_001382659.1:c.*164_*165insCAG	NP_001369588.1:n.*164_*165insCAG
NM_001382662.1:c.*164_*165insCAG	NP_001369591.1:n.*164_*165insCAG
NM_001367562.3:c.*164_*165insCAG	NP_001354491.2:n.*164_*165insCAG
NM_001382655.3:c.*164_*165insCAG	NP_001369584.2:n.*164_*165insCAG
NM_001382657.2:c.*164_*165insCAG	NP_001369586.2:n.*164_*165insCAG
NM_001382658.3:c.*164_*165insCAG	NP_001369587.2:n.*164_*165insCAG
NM_001382659.3:c.*164_*165insCAG	NP_001369588.2:n.*164_*165insCAG
NM_001382662.3:c.*164_*165insCAG	NP_001369591.2:n.*164_*165insCAG
NM_001395413.1:c.*164_*165insCAG MANE Select	NP_001382342.1:n.*164_*165insCAG