Canonical Allele Identifier: CA2678090524

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040946-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040947del , CM000668.2:g.32040947del	GRCh38
NC_000006.11:g.32008724del , CM000668.1:g.32008724del	GRCh37
NC_000006.10:g.32116703del	NCBI36
NG_007941.2:g.7640del
NG_008337.2:g.73428del
NG_007941.3:g.7643del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1301del MANE Select	ENSP00000496625.1:p.Leu434ArgfsTer10
ENST00000418967.6:c.1301del	ENSP00000408860.2:p.Leu434ArgfsTer10
ENST00000435122.3:c.1211del	ENSP00000415043.2:p.Leu404ArgfsTer10
ENST00000479074.5:n.1442del
ENST00000479730.5:n.1417del
ENST00000483041.5:n.1470del
ENST00000486063.5:n.1280del
NM_000500.7:c.1301del	NP_000491.4:p.Leu434ArgfsTer10
NM_001128590.3:c.1211del	NP_001122062.3:p.Leu404ArgfsTer10
XM_011514314.1:c.896del	XP_011512616.1:p.Leu299ArgfsTer10
NM_000500.9:c.1301del MANE Select	NP_000491.4:p.Leu434ArgfsTer10
NM_001368143.1:c.896del	NP_001355072.1:p.Leu299ArgfsTer10
NM_001368144.1:c.896del	NP_001355073.1:p.Leu299ArgfsTer10
NM_001128590.4:c.1211del	NP_001122062.3:p.Leu404ArgfsTer10
NM_001368143.2:c.896del	NP_001355072.1:p.Leu299ArgfsTer10
NM_001368144.2:c.896del	NP_001355073.1:p.Leu299ArgfsTer10