Canonical Allele Identifier: CA2688877616

Gene: CYP11B1 GML

Linked Data

• dbSNP Id: rs759207560
• gnomAD v4: 8-142876518-TCAGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142876530_142876534del , CM000670.2:g.142876530_142876534del	GRCh38
NC_000008.10:g.143957946_143957950del , CM000670.1:g.143957946_143957950del	GRCh37
NC_000008.9:g.143954948_143954952del	NCBI36
NG_007954.1:g.8298_8302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.800-128_800-124del (CYP11B1) MANE Select	ENSP00000292427.5:n.800-128_800-124del
ENST00000292427.8:c.800-128_800-124del (CYP11B1)	ENSP00000292427.4:n.800-128_800-124del
ENST00000314111.4:n.833-128_833-124del (CYP11B1)
ENST00000377675.3:c.1013-128_1013-124del (CYP11B1)	ENSP00000366903.3:n.1013-128_1013-124del
ENST00000517471.5:c.800-128_800-124del (CYP11B1)	ENSP00000428043.1:n.800-128_800-124del
ENST00000522728.5:c.181+35305_181+35309del (GML)	ENSP00000430799.1:n.181+35305_181+35309del
NM_000497.3:c.800-128_800-124del (CYP11B1)	NP_000488.3:n.800-128_800-124del
NM_001026213.1:c.800-128_800-124del (CYP11B1)	NP_001021384.1:n.800-128_800-124del
XM_011516870.1:c.878-128_878-124del (CYP11B1)	XP_011515172.1:n.878-128_878-124del
XM_011516871.1:c.878-128_878-124del (CYP11B1)	XP_011515173.1:n.878-128_878-124del
XM_011516872.1:c.800-128_800-124del (CYP11B1)	XP_011515174.1:n.800-128_800-124del
XM_011516873.1:c.878-128_878-124del (CYP11B1)	XP_011515175.1:n.878-128_878-124del
XM_011516874.1:c.878-128_878-124del (CYP11B1)	XP_011515176.1:n.878-128_878-124del
XM_011516875.1:c.617-128_617-124del (CYP11B1)	XP_011515177.1:n.617-128_617-124del
XM_011516876.1:c.878-128_878-124del (CYP11B1)	XP_011515178.1:n.878-128_878-124del
XM_011516970.1:c.214+35305_214+35309del (GML)	XP_011515272.1:n.214+35305_214+35309del
NM_000497.4:c.800-128_800-124del (CYP11B1) MANE Select	NP_000488.3:n.800-128_800-124del