Canonical Allele Identifier: CA3732694

Gene: CYP21A2

Linked Data

• dbSNP Id: rs769360151
• ExAC: 6:32008583 T / TG
• gnomAD v2: 6-32008583-T-TG
• gnomAD v3: 6-32040806-T-TG
• gnomAD v4: 6-32040806-T-TG
• MyVariant Identifiers: chr6:g.32008583_32008584insG (hg19) ; chr6:g.32040806_32040807insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040808dup , CM000668.2:g.32040808dup	GRCh38
NC_000006.11:g.32008585dup , CM000668.1:g.32008585dup	GRCh37
NC_000006.10:g.32116564dup	NCBI36
NG_007941.2:g.7501dup
NG_008337.2:g.73568dup
NG_007941.3:g.7504dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1222+37dup MANE Select	ENSP00000496625.1:n.1222+37dup
ENST00000418967.6:c.1222+37dup	ENSP00000408860.2:n.1222+37dup
ENST00000435122.3:c.1132+37dup	ENSP00000415043.2:n.1132+37dup
ENST00000479074.5:n.1363+37dup
ENST00000479730.5:n.1338+37dup
ENST00000483041.5:n.1391+37dup
ENST00000486063.5:n.1201+37dup
NM_000500.7:c.1222+37dup	NP_000491.4:n.1222+37dup
NM_001128590.3:c.1132+37dup	NP_001122062.3:n.1132+37dup
XM_011514314.1:c.817+37dup	XP_011512616.1:n.817+37dup
NM_000500.9:c.1222+37dup MANE Select	NP_000491.4:n.1222+37dup
NM_001368143.1:c.817+37dup	NP_001355072.1:n.817+37dup
NM_001368144.1:c.817+37dup	NP_001355073.1:n.817+37dup
NM_001128590.4:c.1132+37dup	NP_001122062.3:n.1132+37dup
NM_001368143.2:c.817+37dup	NP_001355072.1:n.817+37dup
NM_001368144.2:c.817+37dup	NP_001355073.1:n.817+37dup