Canonical Allele Identifier: CA566693905

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1562758814
• gnomAD v2: 6-32007459-A-AGGGGAGAGGCTGAGGTGG
• gnomAD v4: 6-32039682-A-AGGGGAGAGGCTGAGGTGG
• MyVariant Identifiers: chr6:g.32007459_32007460insGGGGAGAGGCTGAGGTGG (hg19) ; chr6:g.32039682_32039683insGGGGAGAGGCTGAGGTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039694_32039695insAGGTGGGGGGAGAGGCTG , CM000668.2:g.32039694_32039695insAGGTGGGGGGAGAGGCTG	GRCh38
NC_000006.11:g.32007471_32007472insAGGTGGGGGGAGAGGCTG , CM000668.1:g.32007471_32007472insAGGTGGGGGGAGAGGCTG	GRCh37
NC_000006.10:g.32115450_32115451insAGGTGGGGGGAGAGGCTG	NCBI36
NG_007941.2:g.6387_6388insAGGTGGGGGGAGAGGCTG
NG_008337.2:g.74692_74693insCCACCTCAGCCTCTCCCC
NG_007941.3:g.6390_6391insAGGTGGGGGGAGAGGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.651+47_651+48insAGGTGGGGGGAGAGGCTG MANE Select	ENSP00000496625.1:n.651+47_651+48insAGGTGGGGGGAGAGGCTG
ENST00000418967.6:c.651+47_651+48insAGGTGGGGGGAGAGGCTG	ENSP00000408860.2:n.651+47_651+48insAGGTGGGGGGAGAGGCTG
ENST00000435122.3:c.561+47_561+48insAGGTGGGGGGAGAGGCTG	ENSP00000415043.2:n.561+47_561+48insAGGTGGGGGGAGAGGCTG
ENST00000462278.1:n.286_287insAGGTGGGGGGAGAGGCTG
ENST00000464325.5:n.572+47_572+48insAGGTGGGGGGAGAGGCTG
ENST00000466779.5:c.*343+47_*343+48insAGGTGGGGGGAGAGGCTG	ENSP00000417321.1:n.*343+47_*343+48insAGGTGGGGGGAGAGGCTG
ENST00000466879.5:n.702+47_702+48insAGGTGGGGGGAGAGGCTG
ENST00000479074.5:n.709+47_709+48insAGGTGGGGGGAGAGGCTG
ENST00000479730.5:n.767+47_767+48insAGGTGGGGGGAGAGGCTG
ENST00000483041.5:n.820+47_820+48insAGGTGGGGGGAGAGGCTG
ENST00000486063.5:n.831+47_831+48insAGGTGGGGGGAGAGGCTG
NM_000500.7:c.651+47_651+48insAGGTGGGGGGAGAGGCTG	NP_000491.4:n.651+47_651+48insAGGTGGGGGGAGAGGCTG
NM_001128590.3:c.561+47_561+48insAGGTGGGGGGAGAGGCTG	NP_001122062.3:n.561+47_561+48insAGGTGGGGGGAGAGGCTG
XM_011514314.1:c.246+47_246+48insAGGTGGGGGGAGAGGCTG	XP_011512616.1:n.246+47_246+48insAGGTGGGGGGAGAGGCTG
NM_000500.9:c.651+47_651+48insAGGTGGGGGGAGAGGCTG MANE Select	NP_000491.4:n.651+47_651+48insAGGTGGGGGGAGAGGCTG
NM_001368143.1:c.246+47_246+48insAGGTGGGGGGAGAGGCTG	NP_001355072.1:n.246+47_246+48insAGGTGGGGGGAGAGGCTG
NM_001368144.1:c.246+47_246+48insAGGTGGGGGGAGAGGCTG	NP_001355073.1:n.246+47_246+48insAGGTGGGGGGAGAGGCTG
NM_001128590.4:c.561+47_561+48insAGGTGGGGGGAGAGGCTG	NP_001122062.3:n.561+47_561+48insAGGTGGGGGGAGAGGCTG
NM_001368143.2:c.246+47_246+48insAGGTGGGGGGAGAGGCTG	NP_001355072.1:n.246+47_246+48insAGGTGGGGGGAGAGGCTG
NM_001368144.2:c.246+47_246+48insAGGTGGGGGGAGAGGCTG	NP_001355073.1:n.246+47_246+48insAGGTGGGGGGAGAGGCTG