Canonical Allele Identifier: CA2678090608

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32041000-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041001dup , CM000668.2:g.32041001dup	GRCh38
NC_000006.11:g.32008778dup , CM000668.1:g.32008778dup	GRCh37
NC_000006.10:g.32116757dup	NCBI36
NG_007941.2:g.7694dup
NG_008337.2:g.73374dup
NG_007941.3:g.7697dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1355dup MANE Select	ENSP00000496625.1:p.Leu453AlafsTer?
ENST00000418967.6:c.1355dup	ENSP00000408860.2:p.Leu453AlafsTer?
ENST00000435122.3:c.1265dup	ENSP00000415043.2:p.Leu423AlafsTer?
ENST00000479074.5:n.1496dup
ENST00000479730.5:n.1471dup
ENST00000483041.5:n.1524dup
ENST00000486063.5:n.1334dup
NM_000500.7:c.1355dup	NP_000491.4:p.Leu453AlafsTer?
NM_001128590.3:c.1265dup	NP_001122062.3:p.Leu423AlafsTer?
XM_011514314.1:c.950dup	XP_011512616.1:p.Leu318AlafsTer?
NM_000500.9:c.1355dup MANE Select	NP_000491.4:p.Leu453AlafsTer?
NM_001368143.1:c.950dup	NP_001355072.1:p.Leu318AlafsTer?
NM_001368144.1:c.950dup	NP_001355073.1:p.Leu318AlafsTer?
NM_001128590.4:c.1265dup	NP_001122062.3:p.Leu423AlafsTer?
NM_001368143.2:c.950dup	NP_001355072.1:p.Leu318AlafsTer?
NM_001368144.2:c.950dup	NP_001355073.1:p.Leu318AlafsTer?