Canonical Allele Identifier: CA2695206190

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041045_32041048del , CM000668.2:g.32041045_32041048del	GRCh38
NC_000006.11:g.32008822_32008825del , CM000668.1:g.32008822_32008825del	GRCh37
NC_000006.10:g.32116801_32116804del	NCBI36
NG_007941.2:g.7738_7741del
NG_008337.2:g.73327_73330del
NG_007941.3:g.7741_7744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1399_1402del MANE Select	ENSP00000496625.1:p.His467AlafsTer?
ENST00000418967.6:c.1399_1402del	ENSP00000408860.2:p.His467AlafsTer?
ENST00000435122.3:c.1309_1312del	ENSP00000415043.2:p.His437AlafsTer?
ENST00000479074.5:n.1540_1543del
ENST00000479730.5:n.1515_1518del
ENST00000483041.5:n.1568_1571del
ENST00000486063.5:n.1378_1381del
NM_000500.7:c.1399_1402del	NP_000491.4:p.His467AlafsTer?
NM_001128590.3:c.1309_1312del	NP_001122062.3:p.His437AlafsTer?
XM_011514314.1:c.994_997del	XP_011512616.1:p.His332AlafsTer?
NM_000500.9:c.1399_1402del MANE Select	NP_000491.4:p.His467AlafsTer?
NM_001368143.1:c.994_997del	NP_001355072.1:p.His332AlafsTer?
NM_001368144.1:c.994_997del	NP_001355073.1:p.His332AlafsTer?
NM_001128590.4:c.1309_1312del	NP_001122062.3:p.His437AlafsTer?
NM_001368143.2:c.994_997del	NP_001355072.1:p.His332AlafsTer?
NM_001368144.2:c.994_997del	NP_001355073.1:p.His332AlafsTer?