Canonical Allele Identifier: CA1825496473

Linked Data

dbSNP Id: rs1816911759

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142875562_142875563del , CM000670.2:g.142875562_142875563del GRCh38
NC_000008.10:g.143956978_143956979del , CM000670.1:g.143956978_143956979del GRCh37
NC_000008.9:g.143953980_143953981del NCBI36
NG_007954.1:g.9258_9259del

Transcript Alleles

HGVS Amino-acid Change
ENST00000292427.10:c.1121+149_1121+150del (CYP11B1) MANE Select ENSP00000292427.5:n.1121+149_1121+150del
ENST00000292427.8:c.1121+149_1121+150del (CYP11B1) ENSP00000292427.4:n.1121+149_1121+150del
ENST00000314111.4:n.1516+149_1516+150del (CYP11B1)
ENST00000377675.3:c.1334+149_1334+150del (CYP11B1) ENSP00000366903.3:n.1334+149_1334+150del
ENST00000517471.5:c.1121+149_1121+150del (CYP11B1) ENSP00000428043.1:n.1121+149_1121+150del
ENST00000519285.5:c.86+149_86+150del (CYP11B1) ENSP00000430144.1:n.86+149_86+150del
ENST00000522728.5:c.181+34337_181+34338del (GML) ENSP00000430799.1:n.181+34337_181+34338del
NM_000497.3:c.1121+149_1121+150del (CYP11B1) NP_000488.3:n.1121+149_1121+150del
NM_001026213.1:c.1121+149_1121+150del (CYP11B1) NP_001021384.1:n.1121+149_1121+150del
XM_011516870.1:c.1199+149_1199+150del (CYP11B1) XP_011515172.1:n.1199+149_1199+150del
XM_011516871.1:c.1199+149_1199+150del (CYP11B1) XP_011515173.1:n.1199+149_1199+150del
XM_011516872.1:c.1121+149_1121+150del (CYP11B1) XP_011515174.1:n.1121+149_1121+150del
XM_011516873.1:c.1199+149_1199+150del (CYP11B1) XP_011515175.1:n.1199+149_1199+150del
XM_011516874.1:c.1199+149_1199+150del (CYP11B1) XP_011515176.1:n.1199+149_1199+150del
XM_011516875.1:c.938+149_938+150del (CYP11B1) XP_011515177.1:n.938+149_938+150del
XM_011516876.1:c.1199+149_1199+150del (CYP11B1) XP_011515178.1:n.1199+149_1199+150del
XM_011516970.1:c.214+34337_214+34338del (GML) XP_011515272.1:n.214+34337_214+34338del
NM_000497.4:c.1121+149_1121+150del (CYP11B1) MANE Select NP_000488.3:n.1121+149_1121+150del