Canonical Allele Identifier: CA2580078656

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 2029348
• ClinVar RCV Id: RCV002863756

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142876342_142876343delinsAC , CM000670.2:g.142876342_142876343delinsAC	GRCh38
NC_000008.10:g.143957758_143957759delinsAC , CM000670.1:g.143957758_143957759delinsAC	GRCh37
NC_000008.9:g.143954760_143954761delinsAC	NCBI36
NG_007954.1:g.8478_8479delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.852_853delinsGT (CYP11B1) MANE Select	ENSP00000292427.5:p.Gln285Ter
ENST00000292427.8:c.852_853delinsGT (CYP11B1)	ENSP00000292427.4:p.Gln285Ter
ENST00000314111.4:n.885_886delinsGT (CYP11B1)
ENST00000377675.3:c.1065_1066delinsGT (CYP11B1)	ENSP00000366903.3:p.Gln356Ter
ENST00000517471.5:c.852_853delinsGT (CYP11B1)	ENSP00000428043.1:p.Gln285Ter
ENST00000522728.5:c.181+35117_181+35118delinsAC (GML)	ENSP00000430799.1:n.181+35117_181+35118delinsAC
NM_000497.3:c.852_853delinsGT (CYP11B1)	NP_000488.3:p.Gln285Ter
NM_001026213.1:c.852_853delinsGT (CYP11B1)	NP_001021384.1:p.Gln285Ter
XM_011516870.1:c.930_931delinsGT (CYP11B1)	XP_011515172.1:p.Gln311Ter
XM_011516871.1:c.930_931delinsGT (CYP11B1)	XP_011515173.1:p.Gln311Ter
XM_011516872.1:c.852_853delinsGT (CYP11B1)	XP_011515174.1:p.Gln285Ter
XM_011516873.1:c.930_931delinsGT (CYP11B1)	XP_011515175.1:p.Gln311Ter
XM_011516874.1:c.930_931delinsGT (CYP11B1)	XP_011515176.1:p.Gln311Ter
XM_011516875.1:c.669_670delinsGT (CYP11B1)	XP_011515177.1:p.Gln224Ter
XM_011516876.1:c.930_931delinsGT (CYP11B1)	XP_011515178.1:p.Gln311Ter
XM_011516970.1:c.214+35117_214+35118delinsAC (GML)	XP_011515272.1:n.214+35117_214+35118delinsAC
NM_000497.4:c.852_853delinsGT (CYP11B1) MANE Select	NP_000488.3:p.Gln285Ter