Canonical Allele Identifier: CA3732392

Gene: CYP21A2

Linked Data

• dbSNP Id: rs745426206
• ExAC: 6:32007077 G / GC
• gnomAD v2: 6-32007077-G-GC
• gnomAD v3: 6-32039300-G-GC
• gnomAD v4: 6-32039300-G-GC
• MyVariant Identifiers: chr6:g.32007077_32007078insC (hg19) ; chr6:g.32039300_32039301insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039305dup , CM000668.2:g.32039305dup	GRCh38
NC_000006.11:g.32007082dup , CM000668.1:g.32007082dup	GRCh37
NC_000006.10:g.32115061dup	NCBI36
NG_007941.2:g.5998dup
NG_008337.2:g.75074dup
NG_007941.3:g.6001dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.448-51dup MANE Select	ENSP00000496625.1:n.448-51dup
ENST00000418967.6:c.448-51dup	ENSP00000408860.2:n.448-51dup
ENST00000435122.3:c.358-51dup	ENSP00000415043.2:n.358-51dup
ENST00000462278.1:n.36-51dup
ENST00000464325.5:n.369-51dup
ENST00000466779.5:c.*140-51dup	ENSP00000417321.1:n.*140-51dup
ENST00000466879.5:n.499-51dup
ENST00000469053.5:c.*140-51dup	ENSP00000418104.1:n.*140-51dup
ENST00000471671.4:c.448-51dup	ENSP00000418561.1:n.448-51dup
ENST00000478281.5:c.481-51dup	ENSP00000419572.1:n.481-51dup
ENST00000479074.5:n.506-51dup
ENST00000479730.5:n.603-51dup
ENST00000483041.5:n.617-51dup
ENST00000486063.5:n.628-51dup
ENST00000488465.1:n.456-51dup
NM_000500.7:c.448-51dup	NP_000491.4:n.448-51dup
NM_001128590.3:c.358-51dup	NP_001122062.3:n.358-51dup
XM_011514314.1:c.43-51dup	XP_011512616.1:n.43-51dup
NM_000500.9:c.448-51dup MANE Select	NP_000491.4:n.448-51dup
NM_001368143.1:c.43-51dup	NP_001355072.1:n.43-51dup
NM_001368144.1:c.43-51dup	NP_001355073.1:n.43-51dup
NM_001128590.4:c.358-51dup	NP_001122062.3:n.358-51dup
NM_001368143.2:c.43-51dup	NP_001355072.1:n.43-51dup
NM_001368144.2:c.43-51dup	NP_001355073.1:n.43-51dup