Canonical Allele Identifier: CA1619399397
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1776267242

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040776del , CM000668.2:g.32040776del GRCh38
NC_000006.11:g.32008553del , CM000668.1:g.32008553del GRCh37
NC_000006.10:g.32116532del NCBI36
NG_007941.2:g.7469del
NG_008337.2:g.73599del
NG_007941.3:g.7472del

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1222+5del MANE Select ENSP00000496625.1:n.1222+5del
ENST00000418967.6:c.1222+5del ENSP00000408860.2:n.1222+5del
ENST00000435122.3:c.1132+5del ENSP00000415043.2:n.1132+5del
ENST00000479074.5:n.1363+5del
ENST00000479730.5:n.1338+5del
ENST00000483041.5:n.1391+5del
ENST00000486063.5:n.1201+5del
NM_000500.7:c.1222+5del NP_000491.4:n.1222+5del
NM_001128590.3:c.1132+5del NP_001122062.3:n.1132+5del
XM_011514314.1:c.817+5del XP_011512616.1:n.817+5del
NM_000500.9:c.1222+5del MANE Select NP_000491.4:n.1222+5del
NM_001368143.1:c.817+5del NP_001355072.1:n.817+5del
NM_001368144.1:c.817+5del NP_001355073.1:n.817+5del
NM_001128590.4:c.1132+5del NP_001122062.3:n.1132+5del
NM_001368143.2:c.817+5del NP_001355072.1:n.817+5del
NM_001368144.2:c.817+5del NP_001355073.1:n.817+5del