Canonical Allele Identifier: CA2688873472
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

gnomAD v4: 8-142914637-TGGA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914639_142914641del , CM000670.2:g.142914639_142914641del GRCh38
NC_000008.10:g.143996055_143996057del , CM000670.1:g.143996055_143996057del GRCh37
NC_000008.9:g.143993057_143993059del NCBI36
NG_008374.1:g.8204_8206del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.799+65_799+67del (CYP11B2) MANE Select ENSP00000325822.2:n.799+65_799+67del
ENST00000522728.5:c.264+594_264+596del (GML) ENSP00000430799.1:n.264+594_264+596del
NM_000498.3:c.799+65_799+67del (CYP11B2) MANE Select NP_000489.3:n.799+65_799+67del
XM_011516877.1:c.877+65_877+67del (CYP11B2) XP_011515179.1:n.877+65_877+67del
XM_011516878.1:c.877+65_877+67del (CYP11B2) XP_011515180.1:n.877+65_877+67del
XM_011516879.1:c.799+65_799+67del (CYP11B2) XP_011515181.1:n.799+65_799+67del
XM_011516970.1:c.297+594_297+596del (GML) XP_011515272.1:n.297+594_297+596del
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