Canonical Allele Identifier: CA4905548

Gene: CYP11B1 GML

Linked Data

• dbSNP Id: rs758387119
• ExAC: 8:143960477 ATGT / A
• gnomAD v2: 8-143960477-ATGT-A
• gnomAD v4: 8-142879061-ATGT-A
• MyVariant Identifiers: chr8:g.143960478_143960480del (hg19) ; chr8:g.142879062_142879064del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142879065_142879067del , CM000670.2:g.142879065_142879067del	GRCh38
NC_000008.10:g.143960481_143960483del , CM000670.1:g.143960481_143960483del	GRCh37
NC_000008.9:g.143957483_143957485del	NCBI36
NG_007954.1:g.5757_5759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.363_365del (CYP11B1) MANE Select	ENSP00000292427.5:p.Gln121del
ENST00000292427.8:c.363_365del (CYP11B1)	ENSP00000292427.4:p.Gln121del
ENST00000314111.4:n.396_398del (CYP11B1)
ENST00000377675.3:c.498_500del (CYP11B1)	ENSP00000366903.3:p.Gln166del
ENST00000517471.5:c.363_365del (CYP11B1)	ENSP00000428043.1:p.Gln121del
ENST00000522728.5:c.182-34898_182-34896del (GML)	ENSP00000430799.1:n.182-34898_182-34896del
NM_000497.3:c.363_365del (CYP11B1)	NP_000488.3:p.Gln121del
NM_001026213.1:c.363_365del (CYP11B1)	NP_001021384.1:p.Gln121del
XM_011516870.1:c.363_365del (CYP11B1)	XP_011515172.1:p.Gln121del
XM_011516871.1:c.363_365del (CYP11B1)	XP_011515173.1:p.Gln121del
XM_011516872.1:c.363_365del (CYP11B1)	XP_011515174.1:p.Gln121del
XM_011516873.1:c.363_365del (CYP11B1)	XP_011515175.1:p.Gln121del
XM_011516874.1:c.363_365del (CYP11B1)	XP_011515176.1:p.Gln121del
XM_011516875.1:c.102_104del (CYP11B1)	XP_011515177.1:p.Gln34del
XM_011516876.1:c.363_365del (CYP11B1)	XP_011515178.1:p.Gln121del
XM_011516970.1:c.215-34898_215-34896del (GML)	XP_011515272.1:n.215-34898_215-34896del
NM_000497.4:c.363_365del (CYP11B1) MANE Select	NP_000488.3:p.Gln121del