Canonical Allele Identifier: CA1825496509

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142875632_142875643delinsGATTCTGTCTGC , CM000670.2:g.142875632_142875643delinsGATTCTGTCTGC GRCh38
NC_000008.10:g.143957048_143957059delinsGATTCTGTCTGC , CM000670.1:g.143957048_143957059delinsGATTCTGTCTGC GRCh37
NC_000008.9:g.143954050_143954061delinsGATTCTGTCTGC NCBI36
NG_007954.1:g.9178_9189delinsGCAGACAGAATC

Transcript Alleles

HGVS Amino-acid change
ENST00000292427.10:c.1121+69_1121+80delinsGCAGACAGAATC (CYP11B1) MANE Select ENSP00000292427.5:n.1121+69_1121+80delins...
ENST00000292427.8:c.1121+69_1121+80delinsGCAGACAGAATC (CYP11B1) ENSP00000292427.4:n.1121+69_1121+80delins...
ENST00000314111.4:n.1516+69_1516+80delinsGCAGACAGAATC (CYP11B1)
ENST00000377675.3:c.1334+69_1334+80delinsGCAGACAGAATC (CYP11B1) ENSP00000366903.3:n.1334+69_1334+80delins...
ENST00000517471.5:c.1121+69_1121+80delinsGCAGACAGAATC (CYP11B1) ENSP00000428043.1:n.1121+69_1121+80delins...
ENST00000519285.5:c.86+69_86+80delinsGCAGACAGAATC (CYP11B1) ENSP00000430144.1:n.86+69_86+80delinsGCAG...
ENST00000522728.5:c.181+34407_181+34418delinsGATTCTGTCTGC (GML) ENSP00000430799.1:n.181+34407_181+34418de...
NM_000497.3:c.1121+69_1121+80delinsGCAGACAGAATC (CYP11B1) NP_000488.3:n.1121+69_1121+80delinsGCAGAC...
NM_001026213.1:c.1121+69_1121+80delinsGCAGACAGAATC (CYP11B1) NP_001021384.1:n.1121+69_1121+80delinsGCA...
XM_011516870.1:c.1199+69_1199+80delinsGCAGACAGAATC (CYP11B1) XP_011515172.1:n.1199+69_1199+80delinsGCA...
XM_011516871.1:c.1199+69_1199+80delinsGCAGACAGAATC (CYP11B1) XP_011515173.1:n.1199+69_1199+80delinsGCA...
XM_011516872.1:c.1121+69_1121+80delinsGCAGACAGAATC (CYP11B1) XP_011515174.1:n.1121+69_1121+80delinsGCA...
XM_011516873.1:c.1199+69_1199+80delinsGCAGACAGAATC (CYP11B1) XP_011515175.1:n.1199+69_1199+80delinsGCA...
XM_011516874.1:c.1199+69_1199+80delinsGCAGACAGAATC (CYP11B1) XP_011515176.1:n.1199+69_1199+80delinsGCA...
XM_011516875.1:c.938+69_938+80delinsGCAGACAGAATC (CYP11B1) XP_011515177.1:n.938+69_938+80delinsGCAGA...
XM_011516876.1:c.1199+69_1199+80delinsGCAGACAGAATC (CYP11B1) XP_011515178.1:n.1199+69_1199+80delinsGCA...
XM_011516970.1:c.214+34407_214+34418delinsGATTCTGTCTGC (GML) XP_011515272.1:n.214+34407_214+34418delin...
NM_000497.4:c.1121+69_1121+80delinsGCAGACAGAATC (CYP11B1) MANE Select NP_000488.3:n.1121+69_1121+80delinsGCAGAC...