Canonical Allele Identifier: CA3732688

Gene: CYP21A2

Linked Data

• dbSNP Id: rs745369353
• ExAC: 6:32008567 G / GC
• gnomAD v2: 6-32008567-G-GC
• gnomAD v4: 6-32040790-G-GC
• MyVariant Identifiers: chr6:g.32008567_32008568insC (hg19) ; chr6:g.32040790_32040791insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040792dup , CM000668.2:g.32040792dup	GRCh38
NC_000006.11:g.32008569dup , CM000668.1:g.32008569dup	GRCh37
NC_000006.10:g.32116548dup	NCBI36
NG_007941.2:g.7485dup
NG_008337.2:g.73584dup
NG_007941.3:g.7488dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1222+21dup MANE Select	ENSP00000496625.1:n.1222+21dup
ENST00000418967.6:c.1222+21dup	ENSP00000408860.2:n.1222+21dup
ENST00000435122.3:c.1132+21dup	ENSP00000415043.2:n.1132+21dup
ENST00000479074.5:n.1363+21dup
ENST00000479730.5:n.1338+21dup
ENST00000483041.5:n.1391+21dup
ENST00000486063.5:n.1201+21dup
NM_000500.7:c.1222+21dup	NP_000491.4:n.1222+21dup
NM_001128590.3:c.1132+21dup	NP_001122062.3:n.1132+21dup
XM_011514314.1:c.817+21dup	XP_011512616.1:n.817+21dup
NM_000500.9:c.1222+21dup MANE Select	NP_000491.4:n.1222+21dup
NM_001368143.1:c.817+21dup	NP_001355072.1:n.817+21dup
NM_001368144.1:c.817+21dup	NP_001355073.1:n.817+21dup
NM_001128590.4:c.1132+21dup	NP_001122062.3:n.1132+21dup
NM_001368143.2:c.817+21dup	NP_001355072.1:n.817+21dup
NM_001368144.2:c.817+21dup	NP_001355073.1:n.817+21dup