Canonical Allele Identifier: CA2579268086

Gene: CYP11B1 GML

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874374del , CM000670.2:g.142874374del	GRCh38
NC_000008.10:g.143955790del , CM000670.1:g.143955790del	GRCh37
NC_000008.9:g.143952792del	NCBI36
NG_007954.1:g.10448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1512del (CYP11B1) MANE Select	ENSP00000292427.5:p.Ter504TyrextTer19
ENST00000292427.8:c.1512del (CYP11B1)	ENSP00000292427.4:p.Ter504TyrextTer19
ENST00000314111.4:n.1709del (CYP11B1)
ENST00000377675.3:c.1725del (CYP11B1)	ENSP00000366903.3:p.Ter575TyrextTer19
ENST00000517471.5:c.1314del (CYP11B1)	ENSP00000428043.1:p.Ter438TyrextTer19
ENST00000519285.5:c.546del (CYP11B1)	ENSP00000430144.1:p.Ter182TyrextTer19
ENST00000522728.5:c.181+33149del (GML)	ENSP00000430799.1:n.181+33149del
NM_000497.3:c.1512del (CYP11B1)	NP_000488.3:p.Ter504TyrextTer19
NM_001026213.1:c.1314del (CYP11B1)	NP_001021384.1:p.Ter438TyrextTer19
XM_011516870.1:c.1750del (CYP11B1)	XP_011515172.1:p.Ile584SerfsTer?
XM_011516871.1:c.1681del (CYP11B1)	XP_011515173.1:p.Ile561SerfsTer?
XM_011516872.1:c.1672del (CYP11B1)	XP_011515174.1:p.Ile558SerfsTer?
XM_011516873.1:c.1659del (CYP11B1)	XP_011515175.1:p.Ter553TyrextTer19
XM_011516874.1:c.1590del (CYP11B1)	XP_011515176.1:p.Ter530TyrextTer19
XM_011516875.1:c.1489del (CYP11B1)	XP_011515177.1:p.Ile497SerfsTer?
XM_011516876.1:c.1461del (CYP11B1)	XP_011515178.1:p.Ter487TyrextTer19
XM_011516970.1:c.214+33149del (GML)	XP_011515272.1:n.214+33149del
NM_000497.4:c.1512del (CYP11B1) MANE Select	NP_000488.3:p.Ter504TyrextTer19