Canonical Allele Identifier: CA566693847

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776026250
• gnomAD v2: 6-32006632-T-TG
• gnomAD v3: 6-32038855-T-TG
• gnomAD v4: 6-32038855-T-TG
• MyVariant Identifiers: chr6:g.32006632_32006633insG (hg19) ; chr6:g.32038855_32038856insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038855_32038856insG , CM000668.2:g.32038855_32038856insG	GRCh38
NC_000006.11:g.32006632_32006633insG , CM000668.1:g.32006632_32006633insG	GRCh37
NC_000006.10:g.32114611_32114612insG	NCBI36
NG_007941.2:g.5548_5549insG
NG_007941.3:g.5551_5552insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.292+44_292+45insG MANE Select	ENSP00000496625.1:n.292+44_292+45insG
ENST00000418967.6:c.292+44_292+45insG	ENSP00000408860.2:n.292+44_292+45insG
ENST00000435122.3:c.202+231_202+232insG	ENSP00000415043.2:n.202+231_202+232insG
ENST00000464325.5:n.229+44_229+45insG
ENST00000466779.5:c.292+44_292+45insG	ENSP00000417321.1:n.292+44_292+45insG
ENST00000466879.5:n.105_106insG
ENST00000469053.5:c.203-220_203-219insG	ENSP00000418104.1:n.203-220_203-219insG
ENST00000471671.4:c.292+44_292+45insG	ENSP00000418561.1:n.292+44_292+45insG
ENST00000478281.5:c.292+44_292+45insG	ENSP00000419572.1:n.292+44_292+45insG
ENST00000479074.5:n.350+44_350+45insG
ENST00000479730.5:n.447+44_447+45insG
ENST00000480027.1:n.389_390insG
ENST00000483041.5:n.442+44_442+45insG
ENST00000486063.5:n.472+44_472+45insG
ENST00000488465.1:n.300+44_300+45insG
NM_000500.7:c.292+44_292+45insG	NP_000491.4:n.292+44_292+45insG
NM_001128590.3:c.202+231_202+232insG	NP_001122062.3:n.202+231_202+232insG
XM_011514314.1:c.-133+44_-133+45insG	XP_011512616.1:n.-133+44_-133+45insG
NM_000500.9:c.292+44_292+45insG MANE Select	NP_000491.4:n.292+44_292+45insG
NM_001368143.1:c.-133+44_-133+45insG	NP_001355072.1:n.-133+44_-133+45insG
NM_001368144.1:c.-132-220_-132-219insG	NP_001355073.1:n.-132-220_-132-219insG
NM_001128590.4:c.202+231_202+232insG	NP_001122062.3:n.202+231_202+232insG
NM_001368143.2:c.-133+44_-133+45insG	NP_001355072.1:n.-133+44_-133+45insG
NM_001368144.2:c.-132-220_-132-219insG	NP_001355073.1:n.-132-220_-132-219insG