Canonical Allele Identifier: CA2695206175

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040106del , CM000668.2:g.32040106del	GRCh38
NC_000006.11:g.32007883del , CM000668.1:g.32007883del	GRCh37
NC_000006.10:g.32115862del	NCBI36
NG_007941.2:g.6799del
NG_008337.2:g.74271del
NG_007941.3:g.6802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.840del MANE Select	ENSP00000496625.1:p.His281ThrfsTer10
ENST00000418967.6:c.840del	ENSP00000408860.2:p.His281ThrfsTer10
ENST00000435122.3:c.750del	ENSP00000415043.2:p.His251ThrfsTer10
ENST00000479074.5:n.898del
ENST00000479730.5:n.956del
ENST00000483041.5:n.1009del
ENST00000486063.5:n.918+271del
NM_000500.7:c.840del	NP_000491.4:p.His281ThrfsTer10
NM_001128590.3:c.750del	NP_001122062.3:p.His251ThrfsTer10
XM_011514314.1:c.435del	XP_011512616.1:p.His146ThrfsTer10
NM_000500.9:c.840del MANE Select	NP_000491.4:p.His281ThrfsTer10
NM_001368143.1:c.435del	NP_001355072.1:p.His146ThrfsTer10
NM_001368144.1:c.435del	NP_001355073.1:p.His146ThrfsTer10
NM_001128590.4:c.750del	NP_001122062.3:p.His251ThrfsTer10
NM_001368143.2:c.435del	NP_001355072.1:p.His146ThrfsTer10
NM_001368144.2:c.435del	NP_001355073.1:p.His146ThrfsTer10