Canonical Allele Identifier: CA823931883

Gene: CYP21A2

Linked Data

• dbSNP Id: rs756876796
• gnomAD v3: 6-32040785-CG-C
• gnomAD v4: 6-32040785-CG-C
• MyVariant Identifiers: chr6:g.32008563del (hg19) ; chr6:g.32040786del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040790del , CM000668.2:g.32040790del	GRCh38
NC_000006.11:g.32008567del , CM000668.1:g.32008567del	GRCh37
NC_000006.10:g.32116546del	NCBI36
NG_007941.2:g.7483del
NG_008337.2:g.73589del
NG_007941.3:g.7486del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1222+19del MANE Select	ENSP00000496625.1:n.1222+19del
ENST00000418967.6:c.1222+19del	ENSP00000408860.2:n.1222+19del
ENST00000435122.3:c.1132+19del	ENSP00000415043.2:n.1132+19del
ENST00000479074.5:n.1363+19del
ENST00000479730.5:n.1338+19del
ENST00000483041.5:n.1391+19del
ENST00000486063.5:n.1201+19del
NM_000500.7:c.1222+19del	NP_000491.4:n.1222+19del
NM_001128590.3:c.1132+19del	NP_001122062.3:n.1132+19del
XM_011514314.1:c.817+19del	XP_011512616.1:n.817+19del
NM_000500.9:c.1222+19del MANE Select	NP_000491.4:n.1222+19del
NM_001368143.1:c.817+19del	NP_001355072.1:n.817+19del
NM_001368144.1:c.817+19del	NP_001355073.1:n.817+19del
NM_001128590.4:c.1132+19del	NP_001122062.3:n.1132+19del
NM_001368143.2:c.817+19del	NP_001355072.1:n.817+19del
NM_001368144.2:c.817+19del	NP_001355073.1:n.817+19del