Canonical Allele Identifier: CA2697546653

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 2749742
• ClinVar RCV Id: RCV003568593

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039777_32039786del , CM000668.2:g.32039777_32039786del	GRCh38
NC_000006.11:g.32007554_32007563del , CM000668.1:g.32007554_32007563del	GRCh37
NC_000006.10:g.32115533_32115542del	NCBI36
NG_007941.2:g.6470_6479del
NG_008337.2:g.74593_74602del
NG_007941.3:g.6473_6482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.680_689del MANE Select	ENSP00000496625.1:p.Leu227ProfsTer2
ENST00000418967.6:c.680_689del	ENSP00000408860.2:p.Leu227ProfsTer2
ENST00000435122.3:c.590_599del	ENSP00000415043.2:p.Leu197ProfsTer2
ENST00000462278.1:n.369_378del
ENST00000466779.5:c.*372_*381del	ENSP00000417321.1:n.*372_*381del
ENST00000466879.5:n.731_740del
ENST00000479074.5:n.738_747del
ENST00000479730.5:n.796_805del
ENST00000483041.5:n.849_858del
ENST00000486063.5:n.860_869del
NM_000500.7:c.680_689del	NP_000491.4:p.Leu227ProfsTer2
NM_001128590.3:c.590_599del	NP_001122062.3:p.Leu197ProfsTer2
XM_011514314.1:c.275_284del	XP_011512616.1:p.Leu92ProfsTer2
NM_000500.9:c.680_689del MANE Select	NP_000491.4:p.Leu227ProfsTer2
NM_001368143.1:c.275_284del	NP_001355072.1:p.Leu92ProfsTer2
NM_001368144.1:c.275_284del	NP_001355073.1:p.Leu92ProfsTer2
NM_001128590.4:c.590_599del	NP_001122062.3:p.Leu197ProfsTer2
NM_001368143.2:c.275_284del	NP_001355072.1:p.Leu92ProfsTer2
NM_001368144.2:c.275_284del	NP_001355073.1:p.Leu92ProfsTer2