Canonical Allele Identifier: CA2695210353

Gene: CYP11B1 GML

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874435_142874437del , CM000670.2:g.142874435_142874437del	GRCh38
NC_000008.10:g.143955851_143955853del , CM000670.1:g.143955851_143955853del	GRCh37
NC_000008.9:g.143952853_143952855del	NCBI36
NG_007954.1:g.10385_10387del

Transcript Alleles

HGVS	Amino-acid change
ENST00000292427.10:c.1449_1451del (CYP11B1) MANE Select	ENSP00000292427.5:p.Met483_Val484delinsIl...
ENST00000292427.8:c.1449_1451del (CYP11B1)	ENSP00000292427.4:p.Met483_Val484delinsIl...
ENST00000314111.4:n.1646_1648del (CYP11B1)
ENST00000377675.3:c.1662_1664del (CYP11B1)	ENSP00000366903.3:p.Met554_Val555delinsIl...
ENST00000517471.5:c.1251_1253del (CYP11B1)	ENSP00000428043.1:p.Met417_Val418delinsIl...
ENST00000519285.5:c.483_485del (CYP11B1)	ENSP00000430144.1:p.Met161_Val162delinsIl...
ENST00000522728.5:c.181+33210_181+33212del (GML)	ENSP00000430799.1:n.181+33210_181+33212de...
NM_000497.3:c.1449_1451del (CYP11B1)	NP_000488.3:p.Met483_Val484delinsIle
NM_001026213.1:c.1251_1253del (CYP11B1)	NP_001021384.1:p.Met417_Val418delinsIle
XM_011516870.1:c.1687_1689del (CYP11B1)	XP_011515172.1:p.Gly563del
XM_011516871.1:c.1618_1620del (CYP11B1)	XP_011515173.1:p.Gly540del
XM_011516872.1:c.1609_1611del (CYP11B1)	XP_011515174.1:p.Gly537del
XM_011516873.1:c.1596_1598del (CYP11B1)	XP_011515175.1:p.Met532_Val533delinsIle
XM_011516874.1:c.1527_1529del (CYP11B1)	XP_011515176.1:p.Met509_Val510delinsIle
XM_011516875.1:c.1426_1428del (CYP11B1)	XP_011515177.1:p.Gly476del
XM_011516876.1:c.1398_1400del (CYP11B1)	XP_011515178.1:p.Met466_Val467delinsIle
XM_011516970.1:c.214+33210_214+33212del (GML)	XP_011515272.1:n.214+33210_214+33212del
NM_000497.4:c.1449_1451del (CYP11B1) MANE Select	NP_000488.3:p.Met483_Val484delinsIle