Canonical Allele Identifier: CA2688876994

Gene: CYP11B1 GML

Linked Data

• gnomAD v4: 8-142875800-GGCTCTCCTGGCGCAGGGCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875804_142875823del , CM000670.2:g.142875804_142875823del	GRCh38
NC_000008.10:g.143957220_143957239del , CM000670.1:g.143957220_143957239del	GRCh37
NC_000008.9:g.143954222_143954241del	NCBI36
NG_007954.1:g.9001_9020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1013_1032del (CYP11B1) MANE Select	ENSP00000292427.5:p.Gln338ProfsTer9
ENST00000292427.8:c.1013_1032del (CYP11B1)	ENSP00000292427.4:p.Gln338ProfsTer9
ENST00000314111.4:n.1408_1427del (CYP11B1)
ENST00000377675.3:c.1226_1245del (CYP11B1)	ENSP00000366903.3:p.Gln409ProfsTer9
ENST00000517471.5:c.1013_1032del (CYP11B1)	ENSP00000428043.1:p.Gln338ProfsTer9
ENST00000522728.5:c.181+34579_181+34598del (GML)	ENSP00000430799.1:n.181+34579_181+34598del
NM_000497.3:c.1013_1032del (CYP11B1)	NP_000488.3:p.Gln338ProfsTer9
NM_001026213.1:c.1013_1032del (CYP11B1)	NP_001021384.1:p.Gln338ProfsTer9
XM_011516870.1:c.1091_1110del (CYP11B1)	XP_011515172.1:p.Gln364ProfsTer9
XM_011516871.1:c.1091_1110del (CYP11B1)	XP_011515173.1:p.Gln364ProfsTer9
XM_011516872.1:c.1013_1032del (CYP11B1)	XP_011515174.1:p.Gln338ProfsTer9
XM_011516873.1:c.1091_1110del (CYP11B1)	XP_011515175.1:p.Gln364ProfsTer9
XM_011516874.1:c.1091_1110del (CYP11B1)	XP_011515176.1:p.Gln364ProfsTer9
XM_011516875.1:c.830_849del (CYP11B1)	XP_011515177.1:p.Gln277ProfsTer9
XM_011516876.1:c.1091_1110del (CYP11B1)	XP_011515178.1:p.Gln364ProfsTer9
XM_011516970.1:c.214+34579_214+34598del (GML)	XP_011515272.1:n.214+34579_214+34598del
NM_000497.4:c.1013_1032del (CYP11B1) MANE Select	NP_000488.3:p.Gln338ProfsTer9