Canonical Allele Identifier: CA2580078669

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 1725783
• ClinVar RCV Id: RCV002309467

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142876787_142876788delinsA , CM000670.2:g.142876787_142876788delinsA	GRCh38
NC_000008.10:g.143958203_143958204delinsA , CM000670.1:g.143958203_143958204delinsA	GRCh37
NC_000008.9:g.143955205_143955206delinsA	NCBI36
NG_007954.1:g.8033_8034delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.693_694delinsT (CYP11B1) MANE Select	ENSP00000292427.5:p.Lys232AsnfsTer?
ENST00000292427.8:c.693_694delinsT (CYP11B1)	ENSP00000292427.4:p.Lys232AsnfsTer?
ENST00000314111.4:n.726_727delinsT (CYP11B1)
ENST00000377675.3:c.906_907delinsT (CYP11B1)	ENSP00000366903.3:p.Lys303AsnfsTer?
ENST00000517471.5:c.693_694delinsT (CYP11B1)	ENSP00000428043.1:p.Lys232AsnfsTer?
ENST00000522728.5:c.181+35562_181+35563delinsA (GML)	ENSP00000430799.1:n.181+35562_181+35563delinsA
NM_000497.3:c.693_694delinsT (CYP11B1)	NP_000488.3:p.Lys232AsnfsTer?
NM_001026213.1:c.693_694delinsT (CYP11B1)	NP_001021384.1:p.Lys232AsnfsTer?
XM_011516870.1:c.771_772delinsT (CYP11B1)	XP_011515172.1:p.Lys258AsnfsTer?
XM_011516871.1:c.771_772delinsT (CYP11B1)	XP_011515173.1:p.Lys258AsnfsTer?
XM_011516872.1:c.693_694delinsT (CYP11B1)	XP_011515174.1:p.Lys232AsnfsTer?
XM_011516873.1:c.771_772delinsT (CYP11B1)	XP_011515175.1:p.Lys258AsnfsTer?
XM_011516874.1:c.771_772delinsT (CYP11B1)	XP_011515176.1:p.Lys258AsnfsTer?
XM_011516875.1:c.510_511delinsT (CYP11B1)	XP_011515177.1:p.Lys171AsnfsTer?
XM_011516876.1:c.771_772delinsT (CYP11B1)	XP_011515178.1:p.Lys258AsnfsTer?
XM_011516970.1:c.214+35562_214+35563delinsA (GML)	XP_011515272.1:n.214+35562_214+35563delinsA
NM_000497.4:c.693_694delinsT (CYP11B1) MANE Select	NP_000488.3:p.Lys232AsnfsTer?