Canonical Allele Identifier: CA2678090607

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040995-TCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040997_32041039del , CM000668.2:g.32040997_32041039del	GRCh38
NC_000006.11:g.32008774_32008816del , CM000668.1:g.32008774_32008816del	GRCh37
NC_000006.10:g.32116753_32116795del	NCBI36
NG_007941.2:g.7690_7732del
NG_008337.2:g.73337_73379del
NG_007941.3:g.7693_7735del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1351_1393del MANE Select	ENSP00000496625.1:p.Thr451CysfsTer?
ENST00000418967.6:c.1351_1393del	ENSP00000408860.2:p.Thr451CysfsTer?
ENST00000435122.3:c.1261_1303del	ENSP00000415043.2:p.Thr421CysfsTer?
ENST00000479074.5:n.1492_1534del
ENST00000479730.5:n.1467_1509del
ENST00000483041.5:n.1520_1562del
ENST00000486063.5:n.1330_1372del
NM_000500.7:c.1351_1393del	NP_000491.4:p.Thr451CysfsTer?
NM_001128590.3:c.1261_1303del	NP_001122062.3:p.Thr421CysfsTer?
XM_011514314.1:c.946_988del	XP_011512616.1:p.Thr316CysfsTer?
NM_000500.9:c.1351_1393del MANE Select	NP_000491.4:p.Thr451CysfsTer?
NM_001368143.1:c.946_988del	NP_001355072.1:p.Thr316CysfsTer?
NM_001368144.1:c.946_988del	NP_001355073.1:p.Thr316CysfsTer?
NM_001128590.4:c.1261_1303del	NP_001122062.3:p.Thr421CysfsTer?
NM_001368143.2:c.946_988del	NP_001355072.1:p.Thr316CysfsTer?
NM_001368144.2:c.946_988del	NP_001355073.1:p.Thr316CysfsTer?