Canonical Allele Identifier: CA2678089003

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039083-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039085dup , CM000668.2:g.32039085dup	GRCh38
NC_000006.11:g.32006862dup , CM000668.1:g.32006862dup	GRCh37
NC_000006.10:g.32114841dup	NCBI36
NG_007941.2:g.5778dup
NG_007941.3:g.5781dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.293-9dup MANE Select	ENSP00000496625.1:n.293-9dup
ENST00000418967.6:c.293-9dup	ENSP00000408860.2:n.293-9dup
ENST00000435122.3:c.203-9dup	ENSP00000415043.2:n.203-9dup
ENST00000464325.5:n.230-25dup
ENST00000466779.5:c.303dup	ENSP00000417321.1:p.Ser102LeufsTer?
ENST00000466879.5:n.335dup
ENST00000469053.5:c.213dup	ENSP00000418104.1:p.Ser72LeufsTer?
ENST00000471671.4:c.293-9dup	ENSP00000418561.1:n.293-9dup
ENST00000478281.5:c.317dup	ENSP00000419572.1:p.Pro107SerfsTer8
ENST00000479074.5:n.351-9dup
ENST00000479730.5:n.448-9dup
ENST00000480027.1:n.619dup
ENST00000483041.5:n.453dup
ENST00000486063.5:n.473-9dup
ENST00000488465.1:n.301-9dup
NM_000500.7:c.293-9dup	NP_000491.4:n.293-9dup
NM_001128590.3:c.203-9dup	NP_001122062.3:n.203-9dup
XM_011514314.1:c.-122dup	XP_011512616.1:n.-122dup
NM_000500.9:c.293-9dup MANE Select	NP_000491.4:n.293-9dup
NM_001368143.1:c.-122dup	NP_001355072.1:n.-122dup
NM_001368144.1:c.-122dup	NP_001355073.1:n.-122dup
NM_001128590.4:c.203-9dup	NP_001122062.3:n.203-9dup
NM_001368143.2:c.-122dup	NP_001355072.1:n.-122dup
NM_001368144.2:c.-122dup	NP_001355073.1:n.-122dup