Canonical Allele Identifier: CA2695210354

Gene: CYP11B1 GML

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874438_142874445delinsCTTTTA , CM000670.2:g.142874438_142874445delinsCTTTTA	GRCh38
NC_000008.10:g.143955854_143955861delinsCTTTTA , CM000670.1:g.143955854_143955861delinsCTTTTA	GRCh37
NC_000008.9:g.143952856_143952863delinsCTTTTA	NCBI36
NG_007954.1:g.10376_10383delinsTAAAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000292427.10:c.1440_1447delinsTAAAAG (CYP11B1) MANE Select	ENSP00000292427.5:p.Ile481LysfsTer?
ENST00000292427.8:c.1440_1447delinsTAAAAG (CYP11B1)	ENSP00000292427.4:p.Ile481LysfsTer?
ENST00000314111.4:n.1637_1644delinsTAAAAG (CYP11B1)
ENST00000377675.3:c.1653_1660delinsTAAAAG (CYP11B1)	ENSP00000366903.3:p.Ile552LysfsTer?
ENST00000517471.5:c.1242_1249delinsTAAAAG (CYP11B1)	ENSP00000428043.1:p.Ile415LysfsTer?
ENST00000519285.5:c.474_481delinsTAAAAG (CYP11B1)	ENSP00000430144.1:p.Ile159LysfsTer?
ENST00000522728.5:c.181+33213_181+33220delinsCTTTTA (GML)	ENSP00000430799.1:n.181+33213_181+33220de...
NM_000497.3:c.1440_1447delinsTAAAAG (CYP11B1)	NP_000488.3:p.Ile481LysfsTer?
NM_001026213.1:c.1242_1249delinsTAAAAG (CYP11B1)	NP_001021384.1:p.Ile415LysfsTer?
XM_011516870.1:c.1678_1685delinsTAAAAG (CYP11B1)	XP_011515172.1:p.His560Ter
XM_011516871.1:c.1609_1616delinsTAAAAG (CYP11B1)	XP_011515173.1:p.His537Ter
XM_011516872.1:c.1600_1607delinsTAAAAG (CYP11B1)	XP_011515174.1:p.His534Ter
XM_011516873.1:c.1587_1594delinsTAAAAG (CYP11B1)	XP_011515175.1:p.Ile530LysfsTer?
XM_011516874.1:c.1518_1525delinsTAAAAG (CYP11B1)	XP_011515176.1:p.Ile507LysfsTer?
XM_011516875.1:c.1417_1424delinsTAAAAG (CYP11B1)	XP_011515177.1:p.His473Ter
XM_011516876.1:c.1389_1396delinsTAAAAG (CYP11B1)	XP_011515178.1:p.Ile464LysfsTer?
XM_011516970.1:c.214+33213_214+33220delinsCTTTTA (GML)	XP_011515272.1:n.214+33213_214+33220delin...
NM_000497.4:c.1440_1447delinsTAAAAG (CYP11B1) MANE Select	NP_000488.3:p.Ile481LysfsTer?