Canonical Allele Identifier: CA2688877188

Gene: CYP11B1 GML

Linked Data

• gnomAD v4: 8-142876060-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142876061_142876062del , CM000670.2:g.142876061_142876062del	GRCh38
NC_000008.10:g.143957477_143957478del , CM000670.1:g.143957477_143957478del	GRCh37
NC_000008.9:g.143954479_143954480del	NCBI36
NG_007954.1:g.8759_8760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.954+179_954+180del (CYP11B1) MANE Select	ENSP00000292427.5:n.954+179_954+180del
ENST00000292427.8:c.954+179_954+180del (CYP11B1)	ENSP00000292427.4:n.954+179_954+180del
ENST00000314111.4:n.1166_1167del (CYP11B1)
ENST00000377675.3:c.1167+179_1167+180del (CYP11B1)	ENSP00000366903.3:n.1167+179_1167+180del
ENST00000517471.5:c.954+179_954+180del (CYP11B1)	ENSP00000428043.1:n.954+179_954+180del
ENST00000522728.5:c.181+34836_181+34837del (GML)	ENSP00000430799.1:n.181+34836_181+34837del
NM_000497.3:c.954+179_954+180del (CYP11B1)	NP_000488.3:n.954+179_954+180del
NM_001026213.1:c.954+179_954+180del (CYP11B1)	NP_001021384.1:n.954+179_954+180del
XM_011516870.1:c.1032+179_1032+180del (CYP11B1)	XP_011515172.1:n.1032+179_1032+180del
XM_011516871.1:c.1032+179_1032+180del (CYP11B1)	XP_011515173.1:n.1032+179_1032+180del
XM_011516872.1:c.954+179_954+180del (CYP11B1)	XP_011515174.1:n.954+179_954+180del
XM_011516873.1:c.1032+179_1032+180del (CYP11B1)	XP_011515175.1:n.1032+179_1032+180del
XM_011516874.1:c.1032+179_1032+180del (CYP11B1)	XP_011515176.1:n.1032+179_1032+180del
XM_011516875.1:c.771+179_771+180del (CYP11B1)	XP_011515177.1:n.771+179_771+180del
XM_011516876.1:c.1032+179_1032+180del (CYP11B1)	XP_011515178.1:n.1032+179_1032+180del
XM_011516970.1:c.214+34836_214+34837del (GML)	XP_011515272.1:n.214+34836_214+34837del
NM_000497.4:c.954+179_954+180del (CYP11B1) MANE Select	NP_000488.3:n.954+179_954+180del