Canonical Allele Identifier: CA823932010

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1341004838
• MyVariant Identifiers: chr6:g.32008711_32008712insT (hg19) ; chr6:g.32040934_32040935insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040935dup , CM000668.2:g.32040935dup	GRCh38
NC_000006.11:g.32008712dup , CM000668.1:g.32008712dup	GRCh37
NC_000006.10:g.32116691dup	NCBI36
NG_007941.2:g.7628dup
NG_008337.2:g.73440dup
NG_007941.3:g.7631dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1289dup MANE Select	ENSP00000496625.1:p.Glu432ArgfsTer?
ENST00000418967.6:c.1289dup	ENSP00000408860.2:p.Glu432ArgfsTer?
ENST00000435122.3:c.1199dup	ENSP00000415043.2:p.Glu402ArgfsTer?
ENST00000479074.5:n.1430dup
ENST00000479730.5:n.1405dup
ENST00000483041.5:n.1458dup
ENST00000486063.5:n.1268dup
NM_000500.7:c.1289dup	NP_000491.4:p.Glu432ArgfsTer?
NM_001128590.3:c.1199dup	NP_001122062.3:p.Glu402ArgfsTer?
XM_011514314.1:c.884dup	XP_011512616.1:p.Glu297ArgfsTer?
NM_000500.9:c.1289dup MANE Select	NP_000491.4:p.Glu432ArgfsTer?
NM_001368143.1:c.884dup	NP_001355072.1:p.Glu297ArgfsTer?
NM_001368144.1:c.884dup	NP_001355073.1:p.Glu297ArgfsTer?
NM_001128590.4:c.1199dup	NP_001122062.3:p.Glu402ArgfsTer?
NM_001368143.2:c.884dup	NP_001355072.1:p.Glu297ArgfsTer?
NM_001368144.2:c.884dup	NP_001355073.1:p.Glu297ArgfsTer?