Canonical Allele Identifier: CA2695210361

Gene: CYP11B1 GML

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875296_142875297del , CM000670.2:g.142875296_142875297del	GRCh38
NC_000008.10:g.143956712_143956713del , CM000670.1:g.143956712_143956713del	GRCh37
NC_000008.9:g.143953714_143953715del	NCBI36
NG_007954.1:g.9525_9526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1138_1139del (CYP11B1) MANE Select	ENSP00000292427.5:p.Leu380ValfsTer?
ENST00000292427.8:c.1138_1139del (CYP11B1)	ENSP00000292427.4:p.Leu380ValfsTer?
ENST00000314111.4:n.1533_1534del (CYP11B1)
ENST00000377675.3:c.1351_1352del (CYP11B1)	ENSP00000366903.3:p.Leu451ValfsTer?
ENST00000517471.5:c.1138_1139del (CYP11B1)	ENSP00000428043.1:p.Leu380ValfsTer?
ENST00000519285.5:c.172_173del (CYP11B1)	ENSP00000430144.1:p.Leu58ValfsTer?
ENST00000522728.5:c.181+34071_181+34072del (GML)	ENSP00000430799.1:n.181+34071_181+34072del
NM_000497.3:c.1138_1139del (CYP11B1)	NP_000488.3:p.Leu380ValfsTer?
NM_001026213.1:c.1138_1139del (CYP11B1)	NP_001021384.1:p.Leu380ValfsTer?
XM_011516870.1:c.1285_1286del (CYP11B1)	XP_011515172.1:p.Leu429ValfsTer?
XM_011516871.1:c.1216_1217del (CYP11B1)	XP_011515173.1:p.Leu406ValfsTer?
XM_011516872.1:c.1207_1208del (CYP11B1)	XP_011515174.1:p.Leu403ValfsTer?
XM_011516873.1:c.1285_1286del (CYP11B1)	XP_011515175.1:p.Leu429ValfsTer?
XM_011516874.1:c.1216_1217del (CYP11B1)	XP_011515176.1:p.Leu406ValfsTer?
XM_011516875.1:c.1024_1025del (CYP11B1)	XP_011515177.1:p.Leu342ValfsTer?
XM_011516876.1:c.1285_1286del (CYP11B1)	XP_011515178.1:p.Leu429ValfsTer?
XM_011516970.1:c.214+34071_214+34072del (GML)	XP_011515272.1:n.214+34071_214+34072del
NM_000497.4:c.1138_1139del (CYP11B1) MANE Select	NP_000488.3:p.Leu380ValfsTer?