Canonical Allele Identifier: CA4905093

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 2681087
• ClinVar RCV Id: RCV003468622
• dbSNP Id: rs777844820
• ExAC: 8:143956696 ACTCG / A
• MyVariant Identifiers: chr8:g.143956697_143956700del (hg19) ; chr8:g.142875281_142875284del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875284_142875287del , CM000670.2:g.142875284_142875287del	GRCh38
NC_000008.10:g.143956700_143956703del , CM000670.1:g.143956700_143956703del	GRCh37
NC_000008.9:g.143953702_143953705del	NCBI36
NG_007954.1:g.9537_9540del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1150_1153del (CYP11B1) MANE Select	ENSP00000292427.5:p.Arg384TrpfsTer?
ENST00000292427.8:c.1150_1153del (CYP11B1)	ENSP00000292427.4:p.Arg384TrpfsTer?
ENST00000314111.4:n.1545_1548del (CYP11B1)
ENST00000377675.3:c.1363_1366del (CYP11B1)	ENSP00000366903.3:p.Arg455TrpfsTer?
ENST00000517471.5:c.1150_1153del (CYP11B1)	ENSP00000428043.1:p.Arg384TrpfsTer18
ENST00000519285.5:c.184_187del (CYP11B1)	ENSP00000430144.1:p.Arg62TrpfsTer?
ENST00000522728.5:c.181+34059_181+34062del (GML)	ENSP00000430799.1:n.181+34059_181+34062del
NM_000497.3:c.1150_1153del (CYP11B1)	NP_000488.3:p.Arg384TrpfsTer?
NM_001026213.1:c.1150_1153del (CYP11B1)	NP_001021384.1:p.Arg384TrpfsTer18
XM_011516870.1:c.1297_1300del (CYP11B1)	XP_011515172.1:p.Arg433TrpfsTer?
XM_011516871.1:c.1228_1231del (CYP11B1)	XP_011515173.1:p.Arg410TrpfsTer?
XM_011516872.1:c.1219_1222del (CYP11B1)	XP_011515174.1:p.Arg407TrpfsTer?
XM_011516873.1:c.1297_1300del (CYP11B1)	XP_011515175.1:p.Arg433TrpfsTer?
XM_011516874.1:c.1228_1231del (CYP11B1)	XP_011515176.1:p.Arg410TrpfsTer?
XM_011516875.1:c.1036_1039del (CYP11B1)	XP_011515177.1:p.Arg346TrpfsTer?
XM_011516876.1:c.1297_1300del (CYP11B1)	XP_011515178.1:p.Arg433TrpfsTer18
XM_011516970.1:c.214+34059_214+34062del (GML)	XP_011515272.1:n.214+34059_214+34062del
NM_000497.4:c.1150_1153del (CYP11B1) MANE Select	NP_000488.3:p.Arg384TrpfsTer?