Canonical Allele Identifier: CA2688873537
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

gnomAD v4: 8-142914708-ACT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914709_142914710del , CM000670.2:g.142914709_142914710del GRCh38
NC_000008.10:g.143996125_143996126del , CM000670.1:g.143996125_143996126del GRCh37
NC_000008.9:g.143993127_143993128del NCBI36
NG_008374.1:g.8134_8135del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.794_795del (CYP11B2) MANE Select ENSP00000325822.2:p.Gln265LeufsTer3
ENST00000522728.5:c.264+664_264+665del (GML) ENSP00000430799.1:n.264+664_264+665del
NM_000498.3:c.794_795del (CYP11B2) MANE Select NP_000489.3:p.Gln265LeufsTer3
XM_011516877.1:c.872_873del (CYP11B2) XP_011515179.1:p.Gln291LeufsTer3
XM_011516878.1:c.872_873del (CYP11B2) XP_011515180.1:p.Gln291LeufsTer3
XM_011516879.1:c.794_795del (CYP11B2) XP_011515181.1:p.Gln265LeufsTer3
XM_011516970.1:c.297+664_297+665del (GML) XP_011515272.1:n.297+664_297+665del
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