Canonical Allele Identifier: CA1825496647

Gene: CYP11B1 GML

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875838_142875851delinsCGAGCCAGCTCAAA , CM000670.2:g.142875838_142875851delinsCGAGCCAGCTCAAA	GRCh38
NC_000008.10:g.143957254_143957267delinsCGAGCCAGCTCAAA , CM000670.1:g.143957254_143957267delinsCGAGCCAGCTCAAA	GRCh37
NC_000008.9:g.143954256_143954269delinsCGAGCCAGCTCAAA	NCBI36
NG_007954.1:g.8970_8983delinsTTTGAGCTGGCTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.982_995delinsTTTGAGCTGGCTCG (CYP11B1) MANE Select	ENSP00000292427.5:p.Phe328=
ENST00000292427.8:c.982_995delinsTTTGAGCTGGCTCG (CYP11B1)	ENSP00000292427.4:p.Phe328=
ENST00000314111.4:n.1377_1390delinsTTTGAGCTGGCTCG (CYP11B1)
ENST00000377675.3:c.1195_1208delinsTTTGAGCTGGCTCG (CYP11B1)	ENSP00000366903.3:p.Phe399=
ENST00000517471.5:c.982_995delinsTTTGAGCTGGCTCG (CYP11B1)	ENSP00000428043.1:p.Phe328=
ENST00000522728.5:c.181+34613_181+34626delinsCGAGCCAGCTCAAA (GML)	ENSP00000430799.1:n.181+34613_181+34626delinsCGAGCCAGCTCAAA
NM_000497.3:c.982_995delinsTTTGAGCTGGCTCG (CYP11B1)	NP_000488.3:p.Phe328=
NM_001026213.1:c.982_995delinsTTTGAGCTGGCTCG (CYP11B1)	NP_001021384.1:p.Phe328=
XM_011516870.1:c.1060_1073delinsTTTGAGCTGGCTCG (CYP11B1)	XP_011515172.1:p.Phe354=
XM_011516871.1:c.1060_1073delinsTTTGAGCTGGCTCG (CYP11B1)	XP_011515173.1:p.Phe354=
XM_011516872.1:c.982_995delinsTTTGAGCTGGCTCG (CYP11B1)	XP_011515174.1:p.Phe328=
XM_011516873.1:c.1060_1073delinsTTTGAGCTGGCTCG (CYP11B1)	XP_011515175.1:p.Phe354=
XM_011516874.1:c.1060_1073delinsTTTGAGCTGGCTCG (CYP11B1)	XP_011515176.1:p.Phe354=
XM_011516875.1:c.799_812delinsTTTGAGCTGGCTCG (CYP11B1)	XP_011515177.1:p.Phe267=
XM_011516876.1:c.1060_1073delinsTTTGAGCTGGCTCG (CYP11B1)	XP_011515178.1:p.Phe354=
XM_011516970.1:c.214+34613_214+34626delinsCGAGCCAGCTCAAA (GML)	XP_011515272.1:n.214+34613_214+34626delinsCGAGCCAGCTCAAA
NM_000497.4:c.982_995delinsTTTGAGCTGGCTCG (CYP11B1) MANE Select	NP_000488.3:p.Phe328=