Canonical Allele Identifier: CA1825496279

Gene: CYP11B1 GML

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875252_142875253delinsGT , CM000670.2:g.142875252_142875253delinsGT	GRCh38
NC_000008.10:g.143956668_143956669delinsGT , CM000670.1:g.143956668_143956669delinsGT	GRCh37
NC_000008.9:g.143953670_143953671delinsGT	NCBI36
NG_007954.1:g.9568_9569delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1181_1182delinsAC (CYP11B1) MANE Select	ENSP00000292427.5:p.Asn394=
ENST00000292427.8:c.1181_1182delinsAC (CYP11B1)	ENSP00000292427.4:p.Asn394=
ENST00000314111.4:n.1576_1577delinsAC (CYP11B1)
ENST00000377675.3:c.1394_1395delinsAC (CYP11B1)	ENSP00000366903.3:p.Asn465=
ENST00000517471.5:c.1181_1182delinsAC (CYP11B1)	ENSP00000428043.1:p.Asn394=
ENST00000519285.5:c.215_216delinsAC (CYP11B1)	ENSP00000430144.1:p.Asn72=
ENST00000522728.5:c.181+34027_181+34028delinsGT (GML)	ENSP00000430799.1:n.181+34027_181+34028delinsGT
NM_000497.3:c.1181_1182delinsAC (CYP11B1)	NP_000488.3:p.Asn394=
NM_001026213.1:c.1181_1182delinsAC (CYP11B1)	NP_001021384.1:p.Asn394=
XM_011516870.1:c.1328_1329delinsAC (CYP11B1)	XP_011515172.1:p.Asn443=
XM_011516871.1:c.1259_1260delinsAC (CYP11B1)	XP_011515173.1:p.Asn420=
XM_011516872.1:c.1250_1251delinsAC (CYP11B1)	XP_011515174.1:p.Asn417=
XM_011516873.1:c.1328_1329delinsAC (CYP11B1)	XP_011515175.1:p.Asn443=
XM_011516874.1:c.1259_1260delinsAC (CYP11B1)	XP_011515176.1:p.Asn420=
XM_011516875.1:c.1067_1068delinsAC (CYP11B1)	XP_011515177.1:p.Asn356=
XM_011516876.1:c.1328_1329delinsAC (CYP11B1)	XP_011515178.1:p.Asn443=
XM_011516970.1:c.214+34027_214+34028delinsGT (GML)	XP_011515272.1:n.214+34027_214+34028delinsGT
NM_000497.4:c.1181_1182delinsAC (CYP11B1) MANE Select	NP_000488.3:p.Asn394=