Canonical Allele Identifier: CA3732466

Gene: CYP21A2

Linked Data

• dbSNP Id: rs768503586
• ExAC: 6:32007459 A / AGGGGAGAGGCTGGGGTGG
• gnomAD v2: 6-32007459-A-AGGGGAGAGGCTGGGGTGG
• gnomAD v3: 6-32039682-A-AGGGGAGAGGCTGGGGTGG
• gnomAD v4: 6-32039682-A-AGGGGAGAGGCTGGGGTGG
• MyVariant Identifiers: chr6:g.32007459_32007460insGGGGAGAGGCTGGGGTGG (hg19) ; chr6:g.32039682_32039683insGGGGAGAGGCTGGGGTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039683_32039700dup , CM000668.2:g.32039683_32039700dup	GRCh38
NC_000006.11:g.32007460_32007477dup , CM000668.1:g.32007460_32007477dup	GRCh37
NC_000006.10:g.32115439_32115456dup	NCBI36
NG_007941.2:g.6376_6393dup
NG_008337.2:g.74675_74692dup
NG_007941.3:g.6379_6396dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.651+36_652-49dup MANE Select	ENSP00000496625.1:n.651+36_652-49dup
ENST00000418967.6:c.651+36_652-49dup	ENSP00000408860.2:n.651+36_652-49dup
ENST00000435122.3:c.561+36_562-49dup	ENSP00000415043.2:n.561+36_562-49dup
ENST00000462278.1:n.275_292dup
ENST00000464325.5:n.572+36_573-49dup
ENST00000466779.5:c.*343+36_*344-49dup	ENSP00000417321.1:n.*343+36_*344-49dup
ENST00000466879.5:n.702+36_703-49dup
ENST00000479074.5:n.709+36_710-49dup
ENST00000479730.5:n.767+36_768-49dup
ENST00000483041.5:n.820+36_821-49dup
ENST00000486063.5:n.831+36_832-49dup
NM_000500.7:c.651+36_652-49dup	NP_000491.4:n.651+36_652-49dup
NM_001128590.3:c.561+36_562-49dup	NP_001122062.3:n.561+36_562-49dup
XM_011514314.1:c.246+36_247-49dup	XP_011512616.1:n.246+36_247-49dup
NM_000500.9:c.651+36_652-49dup MANE Select	NP_000491.4:n.651+36_652-49dup
NM_001368143.1:c.246+36_247-49dup	NP_001355072.1:n.246+36_247-49dup
NM_001368144.1:c.246+36_247-49dup	NP_001355073.1:n.246+36_247-49dup
NM_001128590.4:c.561+36_562-49dup	NP_001122062.3:n.561+36_562-49dup
NM_001368143.2:c.246+36_247-49dup	NP_001355072.1:n.246+36_247-49dup
NM_001368144.2:c.246+36_247-49dup	NP_001355073.1:n.246+36_247-49dup