Canonical Allele Identifier: CA1619399407

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040783_32040784delinsGC , CM000668.2:g.32040783_32040784delinsGC	GRCh38
NC_000006.11:g.32008560_32008561delinsGC , CM000668.1:g.32008560_32008561delinsGC	GRCh37
NC_000006.10:g.32116539_32116540delinsGC	NCBI36
NG_007941.2:g.7476_7477delinsGC
NG_008337.2:g.73591_73592delinsGC
NG_007941.3:g.7479_7480delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1222+12_1222+13delinsGC MANE Select	ENSP00000496625.1:n.1222+12_1222+13delins...
ENST00000418967.6:c.1222+12_1222+13delinsGC	ENSP00000408860.2:n.1222+12_1222+13delins...
ENST00000435122.3:c.1132+12_1132+13delinsGC	ENSP00000415043.2:n.1132+12_1132+13delins...
ENST00000479074.5:n.1363+12_1363+13delinsGC
ENST00000479730.5:n.1338+12_1338+13delinsGC
ENST00000483041.5:n.1391+12_1391+13delinsGC
ENST00000486063.5:n.1201+12_1201+13delinsGC
NM_000500.7:c.1222+12_1222+13delinsGC	NP_000491.4:n.1222+12_1222+13delinsGC
NM_001128590.3:c.1132+12_1132+13delinsGC	NP_001122062.3:n.1132+12_1132+13delinsGC
XM_011514314.1:c.817+12_817+13delinsGC	XP_011512616.1:n.817+12_817+13delinsGC
NM_000500.9:c.1222+12_1222+13delinsGC MANE Select	NP_000491.4:n.1222+12_1222+13delinsGC
NM_001368143.1:c.817+12_817+13delinsGC	NP_001355072.1:n.817+12_817+13delinsGC
NM_001368144.1:c.817+12_817+13delinsGC	NP_001355073.1:n.817+12_817+13delinsGC
NM_001128590.4:c.1132+12_1132+13delinsGC	NP_001122062.3:n.1132+12_1132+13delinsGC
NM_001368143.2:c.817+12_817+13delinsGC	NP_001355072.1:n.817+12_817+13delinsGC
NM_001368144.2:c.817+12_817+13delinsGC	NP_001355073.1:n.817+12_817+13delinsGC