Canonical Allele Identifier: CA1087498490

Gene: CYP21A2

Linked Data

• gnomAD v3: 6-32039074-G-GCCCCC
• gnomAD v4: 6-32039074-G-GCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039075_32039079dup , CM000668.2:g.32039075_32039079dup	GRCh38
NC_000006.11:g.32006852_32006856dup , CM000668.1:g.32006852_32006856dup	GRCh37
NC_000006.10:g.32114831_32114835dup	NCBI36
NG_007941.2:g.5768_5772dup
NG_007941.3:g.5771_5775dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.293-19_293-15dup MANE Select	ENSP00000496625.1:n.293-19_293-15dup
ENST00000418967.6:c.293-19_293-15dup	ENSP00000408860.2:n.293-19_293-15dup
ENST00000435122.3:c.203-19_203-15dup	ENSP00000415043.2:n.203-19_203-15dup
ENST00000464325.5:n.230-35_230-31dup
ENST00000466779.5:c.293_297dup	ENSP00000417321.1:p.Thr100ProfsTer?
ENST00000466879.5:n.325_329dup
ENST00000469053.5:c.203_207dup	ENSP00000418104.1:p.Thr70ProfsTer?
ENST00000471671.4:c.293-19_293-15dup	ENSP00000418561.1:n.293-19_293-15dup
ENST00000478281.5:c.307_311dup	ENSP00000419572.1:p.Pro106HisfsTer?
ENST00000479074.5:n.351-19_351-15dup
ENST00000479730.5:n.448-19_448-15dup
ENST00000480027.1:n.609_613dup
ENST00000483041.5:n.443_447dup
ENST00000486063.5:n.473-19_473-15dup
ENST00000488465.1:n.301-19_301-15dup
NM_000500.7:c.293-19_293-15dup	NP_000491.4:n.293-19_293-15dup
NM_001128590.3:c.203-19_203-15dup	NP_001122062.3:n.203-19_203-15dup
XM_011514314.1:c.-132_-128dup	XP_011512616.1:n.-132_-128dup
NM_000500.9:c.293-19_293-15dup MANE Select	NP_000491.4:n.293-19_293-15dup
NM_001368143.1:c.-132_-128dup	NP_001355072.1:n.-132_-128dup
NM_001368144.1:c.-132_-128dup	NP_001355073.1:n.-132_-128dup
NM_001128590.4:c.203-19_203-15dup	NP_001122062.3:n.203-19_203-15dup
NM_001368143.2:c.-132_-128dup	NP_001355072.1:n.-132_-128dup
NM_001368144.2:c.-132_-128dup	NP_001355073.1:n.-132_-128dup