Canonical Allele Identifier: CA2678089014

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039152-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039155dup , CM000668.2:g.32039155dup	GRCh38
NC_000006.11:g.32006932dup , CM000668.1:g.32006932dup	GRCh37
NC_000006.10:g.32114911dup	NCBI36
NG_007941.2:g.5848dup
NG_007941.3:g.5851dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.354dup MANE Select	ENSP00000496625.1:p.Ala119SerfsTer16
ENST00000418967.6:c.354dup	ENSP00000408860.2:p.Ala119SerfsTer16
ENST00000435122.3:c.264dup	ENSP00000415043.2:p.Ala89SerfsTer16
ENST00000464325.5:n.275dup
ENST00000466779.5:c.*46dup	ENSP00000417321.1:n.*46dup
ENST00000466879.5:n.405dup
ENST00000469053.5:c.*46dup	ENSP00000418104.1:n.*46dup
ENST00000471671.4:c.354dup	ENSP00000418561.1:p.Ala119SerfsTer16
ENST00000478281.5:c.387dup	ENSP00000419572.1:p.Ala130SerfsTer16
ENST00000479074.5:n.412dup
ENST00000479730.5:n.509dup
ENST00000483041.5:n.523dup
ENST00000486063.5:n.534dup
ENST00000488465.1:n.362dup
NM_000500.7:c.354dup	NP_000491.4:p.Ala119SerfsTer16
NM_001128590.3:c.264dup	NP_001122062.3:p.Ala89SerfsTer16
XM_011514314.1:c.-52dup	XP_011512616.1:n.-52dup
NM_000500.9:c.354dup MANE Select	NP_000491.4:p.Ala119SerfsTer16
NM_001368143.1:c.-52dup	NP_001355072.1:n.-52dup
NM_001368144.1:c.-52dup	NP_001355073.1:n.-52dup
NM_001128590.4:c.264dup	NP_001122062.3:p.Ala89SerfsTer16
NM_001368143.2:c.-52dup	NP_001355072.1:n.-52dup
NM_001368144.2:c.-52dup	NP_001355073.1:n.-52dup