Canonical Allele Identifier: CA1825498863

Gene: CYP11B1 GML

Linked Data

• dbSNP Id: rs1817069960
• gnomAD v4: 8-142879337-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142879340_142879341dup , CM000670.2:g.142879340_142879341dup	GRCh38
NC_000008.10:g.143960756_143960757dup , CM000670.1:g.143960756_143960757dup	GRCh37
NC_000008.9:g.143957758_143957759dup	NCBI36
NG_007954.1:g.5482_5483dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.240-152_240-151dup (CYP11B1) MANE Select	ENSP00000292427.5:n.240-152_240-151dup
ENST00000292427.8:c.240-152_240-151dup (CYP11B1)	ENSP00000292427.4:n.240-152_240-151dup
ENST00000314111.4:n.273-152_273-151dup (CYP11B1)
ENST00000377675.3:c.374+7_374+8dup (CYP11B1)	ENSP00000366903.3:n.374+7_374+8dup
ENST00000517471.5:c.240-152_240-151dup (CYP11B1)	ENSP00000428043.1:n.240-152_240-151dup
ENST00000522728.5:c.182-34623_182-34622dup (GML)	ENSP00000430799.1:n.182-34623_182-34622dup
NM_000497.3:c.240-152_240-151dup (CYP11B1)	NP_000488.3:n.240-152_240-151dup
NM_001026213.1:c.240-152_240-151dup (CYP11B1)	NP_001021384.1:n.240-152_240-151dup
XM_011516870.1:c.240-152_240-151dup (CYP11B1)	XP_011515172.1:n.240-152_240-151dup
XM_011516871.1:c.240-152_240-151dup (CYP11B1)	XP_011515173.1:n.240-152_240-151dup
XM_011516872.1:c.240-152_240-151dup (CYP11B1)	XP_011515174.1:n.240-152_240-151dup
XM_011516873.1:c.240-152_240-151dup (CYP11B1)	XP_011515175.1:n.240-152_240-151dup
XM_011516874.1:c.240-152_240-151dup (CYP11B1)	XP_011515176.1:n.240-152_240-151dup
XM_011516875.1:c.-23+6_-23+7dup (CYP11B1)	XP_011515177.1:n.-23+6_-23+7dup
XM_011516876.1:c.240-152_240-151dup (CYP11B1)	XP_011515178.1:n.240-152_240-151dup
XM_011516970.1:c.215-34623_215-34622dup (GML)	XP_011515272.1:n.215-34623_215-34622dup
NM_000497.4:c.240-152_240-151dup (CYP11B1) MANE Select	NP_000488.3:n.240-152_240-151dup