Canonical Allele Identifier: CA2688873536
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

gnomAD v4: 8-142914707-T-TCCC
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914707_142914708insCCC , CM000670.2:g.142914707_142914708insCCC GRCh38
NC_000008.10:g.143996123_143996124insCCC , CM000670.1:g.143996123_143996124insCCC GRCh37
NC_000008.9:g.143993125_143993126insCCC NCBI36
NG_008374.1:g.8136_8137insGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.796_797insGGG (CYP11B2) MANE Select ENSP00000325822.2:p.Tyr266delinsTrpAsp
ENST00000522728.5:c.264+662_264+663insCCC (GML) ENSP00000430799.1:n.264+662_264+663insCCC
NM_000498.3:c.796_797insGGG (CYP11B2) MANE Select NP_000489.3:p.Tyr266delinsTrpAsp
XM_011516877.1:c.874_875insGGG (CYP11B2) XP_011515179.1:p.Tyr292delinsTrpAsp
XM_011516878.1:c.874_875insGGG (CYP11B2) XP_011515180.1:p.Tyr292delinsTrpAsp
XM_011516879.1:c.796_797insGGG (CYP11B2) XP_011515181.1:p.Tyr266delinsTrpAsp
XM_011516970.1:c.297+662_297+663insCCC (GML) XP_011515272.1:n.297+662_297+663insCCC
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