Canonical Allele Identifier: CA2688876706

Gene: CYP11B1 GML

Linked Data

• gnomAD v4: 8-142875377-C-CCTTCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875378_142875383dup , CM000670.2:g.142875378_142875383dup	GRCh38
NC_000008.10:g.143956794_143956799dup , CM000670.1:g.143956794_143956799dup	GRCh37
NC_000008.9:g.143953796_143953801dup	NCBI36
NG_007954.1:g.9438_9443dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1122-71_1122-66dup (CYP11B1) MANE Select	ENSP00000292427.5:n.1122-71_1122-66dup
ENST00000292427.8:c.1122-71_1122-66dup (CYP11B1)	ENSP00000292427.4:n.1122-71_1122-66dup
ENST00000314111.4:n.1517-71_1517-66dup (CYP11B1)
ENST00000377675.3:c.1335-71_1335-66dup (CYP11B1)	ENSP00000366903.3:n.1335-71_1335-66dup
ENST00000517471.5:c.1122-71_1122-66dup (CYP11B1)	ENSP00000428043.1:n.1122-71_1122-66dup
ENST00000519285.5:c.87-2_90dup (CYP11B1)
ENST00000522728.5:c.181+34153_181+34158dup (GML)	ENSP00000430799.1:n.181+34153_181+34158dup
NM_000497.3:c.1122-71_1122-66dup (CYP11B1)	NP_000488.3:n.1122-71_1122-66dup
NM_001026213.1:c.1122-71_1122-66dup (CYP11B1)	NP_001021384.1:n.1122-71_1122-66dup
XM_011516870.1:c.1200-2_1203dup (CYP11B1)
XM_011516871.1:c.1200-71_1200-66dup (CYP11B1)	XP_011515173.1:n.1200-71_1200-66dup
XM_011516872.1:c.1122-2_1125dup (CYP11B1)
XM_011516873.1:c.1200-2_1203dup (CYP11B1)
XM_011516874.1:c.1200-71_1200-66dup (CYP11B1)	XP_011515176.1:n.1200-71_1200-66dup
XM_011516875.1:c.939-2_942dup (CYP11B1)
XM_011516876.1:c.1200-2_1203dup (CYP11B1)
XM_011516970.1:c.214+34153_214+34158dup (GML)	XP_011515272.1:n.214+34153_214+34158dup
NM_000497.4:c.1122-71_1122-66dup (CYP11B1) MANE Select	NP_000488.3:n.1122-71_1122-66dup