Canonical Allele Identifier: CA2580078660

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 1724295
• ClinVar RCV Id: RCV002309563

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142876383_142876384insATCCCTCT , CM000670.2:g.142876383_142876384insATCCCTCT	GRCh38
NC_000008.10:g.143957799_143957800insATCCCTCT , CM000670.1:g.143957799_143957800insATCCCTCT	GRCh37
NC_000008.9:g.143954801_143954802insATCCCTCT	NCBI36
NG_007954.1:g.8437_8438insAGAGGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.811_812insAGAGGGAT (CYP11B1) MANE Select	ENSP00000292427.5:p.Ile271LysfsTer28
ENST00000292427.8:c.811_812insAGAGGGAT (CYP11B1)	ENSP00000292427.4:p.Ile271LysfsTer28
ENST00000314111.4:n.844_845insAGAGGGAT (CYP11B1)
ENST00000377675.3:c.1024_1025insAGAGGGAT (CYP11B1)	ENSP00000366903.3:p.Ile342LysfsTer28
ENST00000517471.5:c.811_812insAGAGGGAT (CYP11B1)	ENSP00000428043.1:p.Ile271LysfsTer28
ENST00000522728.5:c.181+35158_181+35159insATCCCTCT (GML)	ENSP00000430799.1:n.181+35158_181+35159insATCCCTCT
NM_000497.3:c.811_812insAGAGGGAT (CYP11B1)	NP_000488.3:p.Ile271LysfsTer28
NM_001026213.1:c.811_812insAGAGGGAT (CYP11B1)	NP_001021384.1:p.Ile271LysfsTer28
XM_011516870.1:c.889_890insAGAGGGAT (CYP11B1)	XP_011515172.1:p.Ile297LysfsTer28
XM_011516871.1:c.889_890insAGAGGGAT (CYP11B1)	XP_011515173.1:p.Ile297LysfsTer28
XM_011516872.1:c.811_812insAGAGGGAT (CYP11B1)	XP_011515174.1:p.Ile271LysfsTer28
XM_011516873.1:c.889_890insAGAGGGAT (CYP11B1)	XP_011515175.1:p.Ile297LysfsTer28
XM_011516874.1:c.889_890insAGAGGGAT (CYP11B1)	XP_011515176.1:p.Ile297LysfsTer28
XM_011516875.1:c.628_629insAGAGGGAT (CYP11B1)	XP_011515177.1:p.Ile210LysfsTer28
XM_011516876.1:c.889_890insAGAGGGAT (CYP11B1)	XP_011515178.1:p.Ile297LysfsTer28
XM_011516970.1:c.214+35158_214+35159insATCCCTCT (GML)	XP_011515272.1:n.214+35158_214+35159insATCCCTCT
NM_000497.4:c.811_812insAGAGGGAT (CYP11B1) MANE Select	NP_000488.3:p.Ile271LysfsTer28