Canonical Allele Identifier: CA913128483

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142879084_142879112del , CM000670.2:g.142879084_142879112del GRCh38
NC_000008.10:g.143960500_143960528del , CM000670.1:g.143960500_143960528del GRCh37
NC_000008.9:g.143957502_143957530del NCBI36
NG_007954.1:g.5713_5741del

Transcript Alleles

HGVS Amino-acid change
ENST00000292427.10:c.319_347del (CYP11B1) MANE Select ENSP00000292427.5:p.His107GlyfsTer20
ENST00000292427.8:c.319_347del (CYP11B1) ENSP00000292427.4:p.His107GlyfsTer20
ENST00000314111.4:n.352_380del (CYP11B1)
ENST00000377675.3:c.454_482del (CYP11B1) ENSP00000366903.3:p.His152GlyfsTer20
ENST00000517471.5:c.319_347del (CYP11B1) ENSP00000428043.1:p.His107GlyfsTer20
ENST00000522728.5:c.182-34879_182-34851del (GML) ENSP00000430799.1:n.182-34879_182-34851del
NM_000497.3:c.319_347del (CYP11B1) NP_000488.3:p.His107GlyfsTer20
NM_001026213.1:c.319_347del (CYP11B1) NP_001021384.1:p.His107GlyfsTer20
XM_011516870.1:c.319_347del (CYP11B1) XP_011515172.1:p.His107GlyfsTer20
XM_011516871.1:c.319_347del (CYP11B1) XP_011515173.1:p.His107GlyfsTer20
XM_011516872.1:c.319_347del (CYP11B1) XP_011515174.1:p.His107GlyfsTer20
XM_011516873.1:c.319_347del (CYP11B1) XP_011515175.1:p.His107GlyfsTer20
XM_011516874.1:c.319_347del (CYP11B1) XP_011515176.1:p.His107GlyfsTer20
XM_011516875.1:c.58_86del (CYP11B1) XP_011515177.1:p.His20GlyfsTer20
XM_011516876.1:c.319_347del (CYP11B1) XP_011515178.1:p.His107GlyfsTer20
XM_011516970.1:c.215-34879_215-34851del (GML) XP_011515272.1:n.215-34879_215-34851del
NM_000497.4:c.319_347del (CYP11B1) MANE Select NP_000488.3:p.His107GlyfsTer20