Canonical Allele Identifier: CA2695210364

Gene: CYP11B1 GML

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875719_142875745del , CM000670.2:g.142875719_142875745del	GRCh38
NC_000008.10:g.143957135_143957161del , CM000670.1:g.143957135_143957161del	GRCh37
NC_000008.9:g.143954137_143954163del	NCBI36
NG_007954.1:g.9082_9108del

Transcript Alleles

HGVS	Amino-acid change
ENST00000292427.10:c.1094_1120del (CYP11B1) MANE Select	ENSP00000292427.5:p.Leu365_Leu373del
ENST00000292427.8:c.1094_1120del (CYP11B1)	ENSP00000292427.4:p.Leu365_Leu373del
ENST00000314111.4:n.1489_1515del (CYP11B1)
ENST00000377675.3:c.1307_1333del (CYP11B1)	ENSP00000366903.3:p.Leu436_Leu444del
ENST00000517471.5:c.1094_1120del (CYP11B1)	ENSP00000428043.1:p.Leu365_Leu373del
ENST00000519285.5:c.59_85del (CYP11B1)	ENSP00000430144.1:p.Leu20_Leu28del
ENST00000522728.5:c.181+34494_181+34520del (GML)	ENSP00000430799.1:n.181+34494_181+34520de...
NM_000497.3:c.1094_1120del (CYP11B1)	NP_000488.3:p.Leu365_Leu373del
NM_001026213.1:c.1094_1120del (CYP11B1)	NP_001021384.1:p.Leu365_Leu373del
XM_011516870.1:c.1172_1198del (CYP11B1)	XP_011515172.1:p.Leu391_Leu399del
XM_011516871.1:c.1172_1198del (CYP11B1)	XP_011515173.1:p.Leu391_Leu399del
XM_011516872.1:c.1094_1120del (CYP11B1)	XP_011515174.1:p.Leu365_Leu373del
XM_011516873.1:c.1172_1198del (CYP11B1)	XP_011515175.1:p.Leu391_Leu399del
XM_011516874.1:c.1172_1198del (CYP11B1)	XP_011515176.1:p.Leu391_Leu399del
XM_011516875.1:c.911_937del (CYP11B1)	XP_011515177.1:p.Leu304_Leu312del
XM_011516876.1:c.1172_1198del (CYP11B1)	XP_011515178.1:p.Leu391_Leu399del
XM_011516970.1:c.214+34494_214+34520del (GML)	XP_011515272.1:n.214+34494_214+34520del
NM_000497.4:c.1094_1120del (CYP11B1) MANE Select	NP_000488.3:p.Leu365_Leu373del