Canonical Allele Identifier: CA2831039733

Gene: CYP11B1 GML

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875300del , CM000670.2:g.142875300del	GRCh38
NC_000008.10:g.143956716del , CM000670.1:g.143956716del	GRCh37
NC_000008.9:g.143953718del	NCBI36
NG_007954.1:g.9523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1136del (CYP11B1) MANE Select	ENSP00000292427.5:p.Gly379ValfsTer?
ENST00000292427.8:c.1136del (CYP11B1)	ENSP00000292427.4:p.Gly379ValfsTer?
ENST00000314111.4:n.1531del (CYP11B1)
ENST00000377675.3:c.1349del (CYP11B1)	ENSP00000366903.3:p.Gly450ValfsTer?
ENST00000517471.5:c.1136del (CYP11B1)	ENSP00000428043.1:p.Gly379ValfsTer24
ENST00000519285.5:c.170del (CYP11B1)	ENSP00000430144.1:p.Gly57ValfsTer?
ENST00000522728.5:c.181+34075del (GML)	ENSP00000430799.1:n.181+34075del
NM_000497.3:c.1136del (CYP11B1)	NP_000488.3:p.Gly379ValfsTer?
NM_001026213.1:c.1136del (CYP11B1)	NP_001021384.1:p.Gly379ValfsTer24
XM_011516870.1:c.1283del (CYP11B1)	XP_011515172.1:p.Gly428ValfsTer?
XM_011516871.1:c.1214del (CYP11B1)	XP_011515173.1:p.Gly405ValfsTer?
XM_011516872.1:c.1205del (CYP11B1)	XP_011515174.1:p.Gly402ValfsTer?
XM_011516873.1:c.1283del (CYP11B1)	XP_011515175.1:p.Gly428ValfsTer?
XM_011516874.1:c.1214del (CYP11B1)	XP_011515176.1:p.Gly405ValfsTer?
XM_011516875.1:c.1022del (CYP11B1)	XP_011515177.1:p.Gly341ValfsTer?
XM_011516876.1:c.1283del (CYP11B1)	XP_011515178.1:p.Gly428ValfsTer24
XM_011516970.1:c.214+34075del (GML)	XP_011515272.1:n.214+34075del
NM_000497.4:c.1136del (CYP11B1) MANE Select	NP_000488.3:p.Gly379ValfsTer?