Canonical Allele Identifier: CA2688877666

Gene: CYP11B1 GML

Linked Data

• gnomAD v4: 8-142876534-C-CCAGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142876536_142876541dup , CM000670.2:g.142876536_142876541dup	GRCh38
NC_000008.10:g.143957952_143957957dup , CM000670.1:g.143957952_143957957dup	GRCh37
NC_000008.9:g.143954954_143954959dup	NCBI36
NG_007954.1:g.8281_8286dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.799+142_800-140dup (CYP11B1) MANE Select	ENSP00000292427.5:n.799+142_800-140dup
ENST00000292427.8:c.799+142_800-140dup (CYP11B1)	ENSP00000292427.4:n.799+142_800-140dup
ENST00000314111.4:n.832+142_833-140dup (CYP11B1)
ENST00000377675.3:c.1012+142_1013-140dup (CYP11B1)	ENSP00000366903.3:n.1012+142_1013-140dup
ENST00000517471.5:c.799+142_800-140dup (CYP11B1)	ENSP00000428043.1:n.799+142_800-140dup
ENST00000522728.5:c.181+35311_181+35316dup (GML)	ENSP00000430799.1:n.181+35311_181+35316dup
NM_000497.3:c.799+142_800-140dup (CYP11B1)	NP_000488.3:n.799+142_800-140dup
NM_001026213.1:c.799+142_800-140dup (CYP11B1)	NP_001021384.1:n.799+142_800-140dup
XM_011516870.1:c.877+142_878-140dup (CYP11B1)	XP_011515172.1:n.877+142_878-140dup
XM_011516871.1:c.877+142_878-140dup (CYP11B1)	XP_011515173.1:n.877+142_878-140dup
XM_011516872.1:c.799+142_800-140dup (CYP11B1)	XP_011515174.1:n.799+142_800-140dup
XM_011516873.1:c.877+142_878-140dup (CYP11B1)	XP_011515175.1:n.877+142_878-140dup
XM_011516874.1:c.877+142_878-140dup (CYP11B1)	XP_011515176.1:n.877+142_878-140dup
XM_011516875.1:c.616+142_617-140dup (CYP11B1)	XP_011515177.1:n.616+142_617-140dup
XM_011516876.1:c.877+142_878-140dup (CYP11B1)	XP_011515178.1:n.877+142_878-140dup
XM_011516970.1:c.214+35311_214+35316dup (GML)	XP_011515272.1:n.214+35311_214+35316dup
NM_000497.4:c.799+142_800-140dup (CYP11B1) MANE Select	NP_000488.3:n.799+142_800-140dup