Canonical Allele Identifier: CA2573142961

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 1460229
• ClinVar RCV Id: RCV001983015 ; RCV003471199
• dbSNP Id: rs2130273520

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142876341_142876342insAGTA , CM000670.2:g.142876341_142876342insAGTA	GRCh38
NC_000008.10:g.143957757_143957758insAGTA , CM000670.1:g.143957757_143957758insAGTA	GRCh37
NC_000008.9:g.143954759_143954760insAGTA	NCBI36
NG_007954.1:g.8479_8480insTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.853_854insTACT (CYP11B1) MANE Select	ENSP00000292427.5:p.Gln285LeufsTer?
ENST00000292427.8:c.853_854insTACT (CYP11B1)	ENSP00000292427.4:p.Gln285LeufsTer?
ENST00000314111.4:n.886_887insTACT (CYP11B1)
ENST00000377675.3:c.1066_1067insTACT (CYP11B1)	ENSP00000366903.3:p.Gln356LeufsTer?
ENST00000517471.5:c.853_854insTACT (CYP11B1)	ENSP00000428043.1:p.Gln285LeufsTer?
ENST00000522728.5:c.181+35116_181+35117insAGTA (GML)	ENSP00000430799.1:n.181+35116_181+35117insAGTA
NM_000497.3:c.853_854insTACT (CYP11B1)	NP_000488.3:p.Gln285LeufsTer?
NM_001026213.1:c.853_854insTACT (CYP11B1)	NP_001021384.1:p.Gln285LeufsTer?
XM_011516870.1:c.931_932insTACT (CYP11B1)	XP_011515172.1:p.Gln311LeufsTer?
XM_011516871.1:c.931_932insTACT (CYP11B1)	XP_011515173.1:p.Gln311LeufsTer?
XM_011516872.1:c.853_854insTACT (CYP11B1)	XP_011515174.1:p.Gln285LeufsTer?
XM_011516873.1:c.931_932insTACT (CYP11B1)	XP_011515175.1:p.Gln311LeufsTer?
XM_011516874.1:c.931_932insTACT (CYP11B1)	XP_011515176.1:p.Gln311LeufsTer?
XM_011516875.1:c.670_671insTACT (CYP11B1)	XP_011515177.1:p.Gln224LeufsTer?
XM_011516876.1:c.931_932insTACT (CYP11B1)	XP_011515178.1:p.Gln311LeufsTer?
XM_011516970.1:c.214+35116_214+35117insAGTA (GML)	XP_011515272.1:n.214+35116_214+35117insAGTA
NM_000497.4:c.853_854insTACT (CYP11B1) MANE Select	NP_000488.3:p.Gln285LeufsTer?