Canonical Allele Identifier: CA1120117775

Gene: CYP11B1 GML

Linked Data

• gnomAD v3: 8-142876412-AGG-A
• gnomAD v4: 8-142876412-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142876413_142876414del , CM000670.2:g.142876413_142876414del	GRCh38
NC_000008.10:g.143957829_143957830del , CM000670.1:g.143957829_143957830del	GRCh37
NC_000008.9:g.143954831_143954832del	NCBI36
NG_007954.1:g.8407_8408del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.800-19_800-18del (CYP11B1) MANE Select	ENSP00000292427.5:n.800-19_800-18del
ENST00000292427.8:c.800-19_800-18del (CYP11B1)	ENSP00000292427.4:n.800-19_800-18del
ENST00000314111.4:n.833-19_833-18del (CYP11B1)
ENST00000377675.3:c.1013-19_1013-18del (CYP11B1)	ENSP00000366903.3:n.1013-19_1013-18del
ENST00000517471.5:c.800-19_800-18del (CYP11B1)	ENSP00000428043.1:n.800-19_800-18del
ENST00000522728.5:c.181+35188_181+35189del (GML)	ENSP00000430799.1:n.181+35188_181+35189del
NM_000497.3:c.800-19_800-18del (CYP11B1)	NP_000488.3:n.800-19_800-18del
NM_001026213.1:c.800-19_800-18del (CYP11B1)	NP_001021384.1:n.800-19_800-18del
XM_011516870.1:c.878-19_878-18del (CYP11B1)	XP_011515172.1:n.878-19_878-18del
XM_011516871.1:c.878-19_878-18del (CYP11B1)	XP_011515173.1:n.878-19_878-18del
XM_011516872.1:c.800-19_800-18del (CYP11B1)	XP_011515174.1:n.800-19_800-18del
XM_011516873.1:c.878-19_878-18del (CYP11B1)	XP_011515175.1:n.878-19_878-18del
XM_011516874.1:c.878-19_878-18del (CYP11B1)	XP_011515176.1:n.878-19_878-18del
XM_011516875.1:c.617-19_617-18del (CYP11B1)	XP_011515177.1:n.617-19_617-18del
XM_011516876.1:c.878-19_878-18del (CYP11B1)	XP_011515178.1:n.878-19_878-18del
XM_011516970.1:c.214+35188_214+35189del (GML)	XP_011515272.1:n.214+35188_214+35189del
NM_000497.4:c.800-19_800-18del (CYP11B1) MANE Select	NP_000488.3:n.800-19_800-18del