Canonical Allele Identifier: CA4905087

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 1403418
• ClinVar RCV Id: RCV001909041 ; RCV002279773
• dbSNP Id: rs758714890
• ExAC: 8:143956669 T / TTC
• gnomAD v2: 8-143956669-T-TTC
• gnomAD v4: 8-142875253-T-TTC
• MyVariant Identifiers: chr8:g.143956669_143956670insTC (hg19) ; chr8:g.142875253_142875254insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875255_142875256dup , CM000670.2:g.142875255_142875256dup	GRCh38
NC_000008.10:g.143956671_143956672dup , CM000670.1:g.143956671_143956672dup	GRCh37
NC_000008.9:g.143953673_143953674dup	NCBI36
NG_007954.1:g.9566_9567dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1179_1180dup (CYP11B1) MANE Select	ENSP00000292427.5:p.Asn394ArgfsTer?
ENST00000292427.8:c.1179_1180dup (CYP11B1)	ENSP00000292427.4:p.Asn394ArgfsTer?
ENST00000314111.4:n.1574_1575dup (CYP11B1)
ENST00000377675.3:c.1392_1393dup (CYP11B1)	ENSP00000366903.3:p.Asn465ArgfsTer?
ENST00000517471.5:c.1179_1180dup (CYP11B1)	ENSP00000428043.1:p.Asn394ArgfsTer10
ENST00000519285.5:c.213_214dup (CYP11B1)	ENSP00000430144.1:p.Asn72ArgfsTer?
ENST00000522728.5:c.181+34030_181+34031dup (GML)	ENSP00000430799.1:n.181+34030_181+34031dup
NM_000497.3:c.1179_1180dup (CYP11B1)	NP_000488.3:p.Asn394ArgfsTer?
NM_001026213.1:c.1179_1180dup (CYP11B1)	NP_001021384.1:p.Asn394ArgfsTer10
XM_011516870.1:c.1326_1327dup (CYP11B1)	XP_011515172.1:p.Asn443ArgfsTer?
XM_011516871.1:c.1257_1258dup (CYP11B1)	XP_011515173.1:p.Asn420ArgfsTer?
XM_011516872.1:c.1248_1249dup (CYP11B1)	XP_011515174.1:p.Asn417ArgfsTer?
XM_011516873.1:c.1326_1327dup (CYP11B1)	XP_011515175.1:p.Asn443ArgfsTer?
XM_011516874.1:c.1257_1258dup (CYP11B1)	XP_011515176.1:p.Asn420ArgfsTer?
XM_011516875.1:c.1065_1066dup (CYP11B1)	XP_011515177.1:p.Asn356ArgfsTer?
XM_011516876.1:c.1326_1327dup (CYP11B1)	XP_011515178.1:p.Asn443ArgfsTer10
XM_011516970.1:c.214+34030_214+34031dup (GML)	XP_011515272.1:n.214+34030_214+34031dup
NM_000497.4:c.1179_1180dup (CYP11B1) MANE Select	NP_000488.3:p.Asn394ArgfsTer?