Canonical Allele Identifier: CA1825496512

Gene: CYP11B1 GML

Linked Data

• dbSNP Id: rs1816913773
• gnomAD v4: 8-142875634-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875636_142875637del , CM000670.2:g.142875636_142875637del	GRCh38
NC_000008.10:g.143957052_143957053del , CM000670.1:g.143957052_143957053del	GRCh37
NC_000008.9:g.143954054_143954055del	NCBI36
NG_007954.1:g.9185_9186del

Transcript Alleles

HGVS	Amino-acid change
ENST00000292427.10:c.1121+76_1121+77del (CYP11B1) MANE Select	ENSP00000292427.5:n.1121+76_1121+77del
ENST00000292427.8:c.1121+76_1121+77del (CYP11B1)	ENSP00000292427.4:n.1121+76_1121+77del
ENST00000314111.4:n.1516+76_1516+77del (CYP11B1)
ENST00000377675.3:c.1334+76_1334+77del (CYP11B1)	ENSP00000366903.3:n.1334+76_1334+77del
ENST00000517471.5:c.1121+76_1121+77del (CYP11B1)	ENSP00000428043.1:n.1121+76_1121+77del
ENST00000519285.5:c.86+76_86+77del (CYP11B1)	ENSP00000430144.1:n.86+76_86+77del
ENST00000522728.5:c.181+34411_181+34412del (GML)	ENSP00000430799.1:n.181+34411_181+34412de...
NM_000497.3:c.1121+76_1121+77del (CYP11B1)	NP_000488.3:n.1121+76_1121+77del
NM_001026213.1:c.1121+76_1121+77del (CYP11B1)	NP_001021384.1:n.1121+76_1121+77del
XM_011516870.1:c.1199+76_1199+77del (CYP11B1)	XP_011515172.1:n.1199+76_1199+77del
XM_011516871.1:c.1199+76_1199+77del (CYP11B1)	XP_011515173.1:n.1199+76_1199+77del
XM_011516872.1:c.1121+76_1121+77del (CYP11B1)	XP_011515174.1:n.1121+76_1121+77del
XM_011516873.1:c.1199+76_1199+77del (CYP11B1)	XP_011515175.1:n.1199+76_1199+77del
XM_011516874.1:c.1199+76_1199+77del (CYP11B1)	XP_011515176.1:n.1199+76_1199+77del
XM_011516875.1:c.938+76_938+77del (CYP11B1)	XP_011515177.1:n.938+76_938+77del
XM_011516876.1:c.1199+76_1199+77del (CYP11B1)	XP_011515178.1:n.1199+76_1199+77del
XM_011516970.1:c.214+34411_214+34412del (GML)	XP_011515272.1:n.214+34411_214+34412del
NM_000497.4:c.1121+76_1121+77del (CYP11B1) MANE Select	NP_000488.3:n.1121+76_1121+77del