Canonical Allele Identifier: CA1139660803

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 941055
• ClinVar RCV Id: RCV001210763
• dbSNP Id: rs1816926704

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875843_142875855del , CM000670.2:g.142875843_142875855del	GRCh38
NC_000008.10:g.143957259_143957271del , CM000670.1:g.143957259_143957271del	GRCh37
NC_000008.9:g.143954261_143954273del	NCBI36
NG_007954.1:g.8970_8982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.982_994del (CYP11B1) MANE Select	ENSP00000292427.5:p.Phe328GlyfsTer?
ENST00000292427.8:c.982_994del (CYP11B1)	ENSP00000292427.4:p.Phe328GlyfsTer?
ENST00000314111.4:n.1377_1389del (CYP11B1)
ENST00000377675.3:c.1195_1207del (CYP11B1)	ENSP00000366903.3:p.Phe399GlyfsTer?
ENST00000517471.5:c.982_994del (CYP11B1)	ENSP00000428043.1:p.Phe328GlyfsTer?
ENST00000522728.5:c.181+34618_181+34630del (GML)	ENSP00000430799.1:n.181+34618_181+34630del
NM_000497.3:c.982_994del (CYP11B1)	NP_000488.3:p.Phe328GlyfsTer?
NM_001026213.1:c.982_994del (CYP11B1)	NP_001021384.1:p.Phe328GlyfsTer?
XM_011516870.1:c.1060_1072del (CYP11B1)	XP_011515172.1:p.Phe354GlyfsTer?
XM_011516871.1:c.1060_1072del (CYP11B1)	XP_011515173.1:p.Phe354GlyfsTer?
XM_011516872.1:c.982_994del (CYP11B1)	XP_011515174.1:p.Phe328GlyfsTer?
XM_011516873.1:c.1060_1072del (CYP11B1)	XP_011515175.1:p.Phe354GlyfsTer?
XM_011516874.1:c.1060_1072del (CYP11B1)	XP_011515176.1:p.Phe354GlyfsTer?
XM_011516875.1:c.799_811del (CYP11B1)	XP_011515177.1:p.Phe267GlyfsTer?
XM_011516876.1:c.1060_1072del (CYP11B1)	XP_011515178.1:p.Phe354GlyfsTer?
XM_011516970.1:c.214+34618_214+34630del (GML)	XP_011515272.1:n.214+34618_214+34630del
NM_000497.4:c.982_994del (CYP11B1) MANE Select	NP_000488.3:p.Phe328GlyfsTer?