Canonical Allele Identifier: CA566693945

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1562765312
• gnomAD v2: 6-32008916-GC-G
• gnomAD v4: 6-32041139-GC-G
• MyVariant Identifiers: chr6:g.32008917del (hg19) ; chr6:g.32041140del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041140del , CM000668.2:g.32041140del	GRCh38
NC_000006.11:g.32008917del , CM000668.1:g.32008917del	GRCh37
NC_000006.10:g.32116896del	NCBI36
NG_007941.2:g.7833del
NG_008337.2:g.73235del
NG_007941.3:g.7836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.*6del MANE Select	ENSP00000496625.1:n.*6del
ENST00000418967.6:c.*6del	ENSP00000408860.2:n.*6del
ENST00000435122.3:c.*6del	ENSP00000415043.2:n.*6del
ENST00000479074.5:n.1635del
ENST00000479730.5:n.1610del
ENST00000483041.5:n.1663del
ENST00000486063.5:n.1473del
NM_000500.7:c.*6del	NP_000491.4:n.*6del
NM_001128590.3:c.*6del	NP_001122062.3:n.*6del
XM_011514314.1:c.*6del	XP_011512616.1:n.*6del
NM_000500.9:c.*6del MANE Select	NP_000491.4:n.*6del
NM_001368143.1:c.*6del	NP_001355072.1:n.*6del
NM_001368144.1:c.*6del	NP_001355073.1:n.*6del
NM_001128590.4:c.*6del	NP_001122062.3:n.*6del
NM_001368143.2:c.*6del	NP_001355072.1:n.*6del
NM_001368144.2:c.*6del	NP_001355073.1:n.*6del