Canonical Allele Identifier: CA2688876683

Gene: CYP11B1 GML

Linked Data

• gnomAD v4: 8-142875189-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875190_142875191del , CM000670.2:g.142875190_142875191del	GRCh38
NC_000008.10:g.143956606_143956607del , CM000670.1:g.143956606_143956607del	GRCh37
NC_000008.9:g.143953608_143953609del	NCBI36
NG_007954.1:g.9630_9631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1201-37_1201-36del (CYP11B1) MANE Select	ENSP00000292427.5:n.1201-37_1201-36del
ENST00000292427.8:c.1201-37_1201-36del (CYP11B1)	ENSP00000292427.4:n.1201-37_1201-36del
ENST00000314111.4:n.1595+43_1595+44del (CYP11B1)
ENST00000377675.3:c.1414-37_1414-36del (CYP11B1)	ENSP00000366903.3:n.1414-37_1414-36del
ENST00000517471.5:c.1200+43_1200+44del (CYP11B1)	ENSP00000428043.1:n.1200+43_1200+44del
ENST00000519285.5:c.235-37_235-36del (CYP11B1)	ENSP00000430144.1:n.235-37_235-36del
ENST00000522728.5:c.181+33965_181+33966del (GML)	ENSP00000430799.1:n.181+33965_181+33966del
NM_000497.3:c.1201-37_1201-36del (CYP11B1)	NP_000488.3:n.1201-37_1201-36del
NM_001026213.1:c.1200+43_1200+44del (CYP11B1)	NP_001021384.1:n.1200+43_1200+44del
XM_011516870.1:c.1348-37_1348-36del (CYP11B1)	XP_011515172.1:n.1348-37_1348-36del
XM_011516871.1:c.1279-37_1279-36del (CYP11B1)	XP_011515173.1:n.1279-37_1279-36del
XM_011516872.1:c.1270-37_1270-36del (CYP11B1)	XP_011515174.1:n.1270-37_1270-36del
XM_011516873.1:c.1348-37_1348-36del (CYP11B1)	XP_011515175.1:n.1348-37_1348-36del
XM_011516874.1:c.1279-37_1279-36del (CYP11B1)	XP_011515176.1:n.1279-37_1279-36del
XM_011516875.1:c.1087-37_1087-36del (CYP11B1)	XP_011515177.1:n.1087-37_1087-36del
XM_011516876.1:c.1347+43_1347+44del (CYP11B1)	XP_011515178.1:n.1347+43_1347+44del
XM_011516970.1:c.214+33965_214+33966del (GML)	XP_011515272.1:n.214+33965_214+33966del
NM_000497.4:c.1201-37_1201-36del (CYP11B1) MANE Select	NP_000488.3:n.1201-37_1201-36del