Canonical Allele Identifier: CA2688879426

Gene: CYP11B1 GML

Linked Data

• gnomAD v4: 8-142879330-C-CCCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142879331_142879334dup , CM000670.2:g.142879331_142879334dup	GRCh38
NC_000008.10:g.143960747_143960750dup , CM000670.1:g.143960747_143960750dup	GRCh37
NC_000008.9:g.143957749_143957752dup	NCBI36
NG_007954.1:g.5487_5490dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.240-147_240-144dup (CYP11B1) MANE Select	ENSP00000292427.5:n.240-147_240-144dup
ENST00000292427.8:c.240-147_240-144dup (CYP11B1)	ENSP00000292427.4:n.240-147_240-144dup
ENST00000314111.4:n.273-147_273-144dup (CYP11B1)
ENST00000377675.3:c.374+12_374+15dup (CYP11B1)	ENSP00000366903.3:n.374+12_374+15dup
ENST00000517471.5:c.240-147_240-144dup (CYP11B1)	ENSP00000428043.1:n.240-147_240-144dup
ENST00000522728.5:c.182-34632_182-34629dup (GML)	ENSP00000430799.1:n.182-34632_182-34629dup
NM_000497.3:c.240-147_240-144dup (CYP11B1)	NP_000488.3:n.240-147_240-144dup
NM_001026213.1:c.240-147_240-144dup (CYP11B1)	NP_001021384.1:n.240-147_240-144dup
XM_011516870.1:c.240-147_240-144dup (CYP11B1)	XP_011515172.1:n.240-147_240-144dup
XM_011516871.1:c.240-147_240-144dup (CYP11B1)	XP_011515173.1:n.240-147_240-144dup
XM_011516872.1:c.240-147_240-144dup (CYP11B1)	XP_011515174.1:n.240-147_240-144dup
XM_011516873.1:c.240-147_240-144dup (CYP11B1)	XP_011515175.1:n.240-147_240-144dup
XM_011516874.1:c.240-147_240-144dup (CYP11B1)	XP_011515176.1:n.240-147_240-144dup
XM_011516875.1:c.-23+11_-23+14dup (CYP11B1)	XP_011515177.1:n.-23+11_-23+14dup
XM_011516876.1:c.240-147_240-144dup (CYP11B1)	XP_011515178.1:n.240-147_240-144dup
XM_011516970.1:c.215-34632_215-34629dup (GML)	XP_011515272.1:n.215-34632_215-34629dup
NM_000497.4:c.240-147_240-144dup (CYP11B1) MANE Select	NP_000488.3:n.240-147_240-144dup