Canonical Allele Identifier: CA2688875815
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

gnomAD v4: 8-142912387-TCCTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142912391_142912394del , CM000670.2:g.142912391_142912394del GRCh38
NC_000008.10:g.143993807_143993810del , CM000670.1:g.143993807_143993810del GRCh37
NC_000008.9:g.143990809_143990812del NCBI36
NG_008374.1:g.10453_10456del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.1398+139_1398+142del (CYP11B2) MANE Select ENSP00000325822.2:n.1398+139_1398+142del
ENST00000522728.5:c.182-1572_182-1569del (GML) ENSP00000430799.1:n.182-1572_182-1569del
NM_000498.3:c.1398+139_1398+142del (CYP11B2) MANE Select NP_000489.3:n.1398+139_1398+142del
XM_011516877.1:c.1545+139_1545+142del (CYP11B2) XP_011515179.1:n.1545+139_1545+142del
XM_011516878.1:c.1476+139_1476+142del (CYP11B2) XP_011515180.1:n.1476+139_1476+142del
XM_011516879.1:c.1467+139_1467+142del (CYP11B2) XP_011515181.1:n.1467+139_1467+142del
XM_011516970.1:c.215-1572_215-1569del (GML) XP_011515272.1:n.215-1572_215-1569del
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