Canonical Allele Identifier: CA913128482

Gene: CYP11B1 GML

Linked Data

• MyVariant Identifiers: chr8:g.143960470_143960471del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142879054_142879055del , CM000670.2:g.142879054_142879055del	GRCh38
NC_000008.10:g.143960470_143960471del , CM000670.1:g.143960470_143960471del	GRCh37
NC_000008.9:g.143957472_143957473del	NCBI36
NG_007954.1:g.5766_5767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.372_373del (CYP11B1) MANE Select	ENSP00000292427.5:p.His125GlnfsTer11
ENST00000292427.8:c.372_373del (CYP11B1)	ENSP00000292427.4:p.His125GlnfsTer11
ENST00000314111.4:n.405_406del (CYP11B1)
ENST00000377675.3:c.507_508del (CYP11B1)	ENSP00000366903.3:p.His170GlnfsTer11
ENST00000517471.5:c.372_373del (CYP11B1)	ENSP00000428043.1:p.His125GlnfsTer11
ENST00000522728.5:c.182-34909_182-34908del (GML)	ENSP00000430799.1:n.182-34909_182-34908del
NM_000497.3:c.372_373del (CYP11B1)	NP_000488.3:p.His125GlnfsTer11
NM_001026213.1:c.372_373del (CYP11B1)	NP_001021384.1:p.His125GlnfsTer11
XM_011516870.1:c.372_373del (CYP11B1)	XP_011515172.1:p.His125GlnfsTer11
XM_011516871.1:c.372_373del (CYP11B1)	XP_011515173.1:p.His125GlnfsTer11
XM_011516872.1:c.372_373del (CYP11B1)	XP_011515174.1:p.His125GlnfsTer11
XM_011516873.1:c.372_373del (CYP11B1)	XP_011515175.1:p.His125GlnfsTer11
XM_011516874.1:c.372_373del (CYP11B1)	XP_011515176.1:p.His125GlnfsTer11
XM_011516875.1:c.111_112del (CYP11B1)	XP_011515177.1:p.His38GlnfsTer11
XM_011516876.1:c.372_373del (CYP11B1)	XP_011515178.1:p.His125GlnfsTer11
XM_011516970.1:c.215-34909_215-34908del (GML)	XP_011515272.1:n.215-34909_215-34908del
NM_000497.4:c.372_373del (CYP11B1) MANE Select	NP_000488.3:p.His125GlnfsTer11