Canonical Allele Identifier: CA2678089339

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040461-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040463_32040464del , CM000668.2:g.32040463_32040464del	GRCh38
NC_000006.11:g.32008240_32008241del , CM000668.1:g.32008240_32008241del	GRCh37
NC_000006.10:g.32116219_32116220del	NCBI36
NG_007941.2:g.7156_7157del
NG_008337.2:g.73912_73913del
NG_007941.3:g.7159_7160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.997_998del MANE Select	ENSP00000496625.1:p.Ser333ProfsTer?
ENST00000418967.6:c.997_998del	ENSP00000408860.2:p.Ser333ProfsTer?
ENST00000435122.3:c.907_908del	ENSP00000415043.2:p.Ser303ProfsTer?
ENST00000479074.5:n.1055_1056del
ENST00000479730.5:n.1113_1114del
ENST00000483041.5:n.1166_1167del
ENST00000486063.5:n.976_977del
NM_000500.7:c.997_998del	NP_000491.4:p.Ser333ProfsTer?
NM_001128590.3:c.907_908del	NP_001122062.3:p.Ser303ProfsTer?
XM_011514314.1:c.592_593del	XP_011512616.1:p.Ser198ProfsTer?
NM_000500.9:c.997_998del MANE Select	NP_000491.4:p.Ser333ProfsTer?
NM_001368143.1:c.592_593del	NP_001355072.1:p.Ser198ProfsTer?
NM_001368144.1:c.592_593del	NP_001355073.1:p.Ser198ProfsTer?
NM_001128590.4:c.907_908del	NP_001122062.3:p.Ser303ProfsTer?
NM_001368143.2:c.592_593del	NP_001355072.1:p.Ser198ProfsTer?
NM_001368144.2:c.592_593del	NP_001355073.1:p.Ser198ProfsTer?