Canonical Allele Identifier: CA1825496505

Linked Data

dbSNP Id: rs1816913543

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142875633_142875670del , CM000670.2:g.142875633_142875670del GRCh38
NC_000008.10:g.143957049_143957086del , CM000670.1:g.143957049_143957086del GRCh37
NC_000008.9:g.143954051_143954088del NCBI36
NG_007954.1:g.9155_9192del

Transcript Alleles

HGVS Amino-acid change
ENST00000292427.10:c.1121+46_1121+83del (CYP11B1) MANE Select ENSP00000292427.5:n.1121+46_1121+83del
ENST00000292427.8:c.1121+46_1121+83del (CYP11B1) ENSP00000292427.4:n.1121+46_1121+83del
ENST00000314111.4:n.1516+46_1516+83del (CYP11B1)
ENST00000377675.3:c.1334+46_1334+83del (CYP11B1) ENSP00000366903.3:n.1334+46_1334+83del
ENST00000517471.5:c.1121+46_1121+83del (CYP11B1) ENSP00000428043.1:n.1121+46_1121+83del
ENST00000519285.5:c.86+46_86+83del (CYP11B1) ENSP00000430144.1:n.86+46_86+83del
ENST00000522728.5:c.181+34408_181+34445del (GML) ENSP00000430799.1:n.181+34408_181+34445de...
NM_000497.3:c.1121+46_1121+83del (CYP11B1) NP_000488.3:n.1121+46_1121+83del
NM_001026213.1:c.1121+46_1121+83del (CYP11B1) NP_001021384.1:n.1121+46_1121+83del
XM_011516870.1:c.1199+46_1199+83del (CYP11B1) XP_011515172.1:n.1199+46_1199+83del
XM_011516871.1:c.1199+46_1199+83del (CYP11B1) XP_011515173.1:n.1199+46_1199+83del
XM_011516872.1:c.1121+46_1121+83del (CYP11B1) XP_011515174.1:n.1121+46_1121+83del
XM_011516873.1:c.1199+46_1199+83del (CYP11B1) XP_011515175.1:n.1199+46_1199+83del
XM_011516874.1:c.1199+46_1199+83del (CYP11B1) XP_011515176.1:n.1199+46_1199+83del
XM_011516875.1:c.938+46_938+83del (CYP11B1) XP_011515177.1:n.938+46_938+83del
XM_011516876.1:c.1199+46_1199+83del (CYP11B1) XP_011515178.1:n.1199+46_1199+83del
XM_011516970.1:c.214+34408_214+34445del (GML) XP_011515272.1:n.214+34408_214+34445del
NM_000497.4:c.1121+46_1121+83del (CYP11B1) MANE Select NP_000488.3:n.1121+46_1121+83del