Canonical Allele Identifier: CA1619396747

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039072_32039074delinsCAG , CM000668.2:g.32039072_32039074delinsCAG	GRCh38
NC_000006.11:g.32006849_32006851delinsCAG , CM000668.1:g.32006849_32006851delinsCAG	GRCh37
NC_000006.10:g.32114828_32114830delinsCAG	NCBI36
NG_007941.2:g.5765_5767delinsCAG
NG_007941.3:g.5768_5770delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.293-22_293-20delinsCAG MANE Select	ENSP00000496625.1:n.293-22_293-20delinsCAG
ENST00000418967.6:c.293-22_293-20delinsCAG	ENSP00000408860.2:n.293-22_293-20delinsCAG
ENST00000435122.3:c.203-22_203-20delinsCAG	ENSP00000415043.2:n.203-22_203-20delinsCAG
ENST00000464325.5:n.230-38_230-36delinsCAG
ENST00000466779.5:c.293-3_293-1delinsCAG	ENSP00000417321.1:n.293-3_293-1delinsCAG
ENST00000466879.5:n.322_324delinsCAG
ENST00000469053.5:c.203-3_203-1delinsCAG	ENSP00000418104.1:n.203-3_203-1delinsCAG
ENST00000471671.4:c.293-22_293-20delinsCAG	ENSP00000418561.1:n.293-22_293-20delinsCAG
ENST00000478281.5:c.304_306delinsCAG	ENSP00000419572.1:p.Gln102=
ENST00000479074.5:n.351-22_351-20delinsCAG
ENST00000479730.5:n.448-22_448-20delinsCAG
ENST00000480027.1:n.606_608delinsCAG
ENST00000483041.5:n.443-3_443-1delinsCAG
ENST00000486063.5:n.473-22_473-20delinsCAG
ENST00000488465.1:n.301-22_301-20delinsCAG
NM_000500.7:c.293-22_293-20delinsCAG	NP_000491.4:n.293-22_293-20delinsCAG
NM_001128590.3:c.203-22_203-20delinsCAG	NP_001122062.3:n.203-22_203-20delinsCAG
XM_011514314.1:c.-132-3_-132-1delinsCAG	XP_011512616.1:n.-132-3_-132-1delinsCAG
NM_000500.9:c.293-22_293-20delinsCAG MANE Select	NP_000491.4:n.293-22_293-20delinsCAG
NM_001368143.1:c.-132-3_-132-1delinsCAG	NP_001355072.1:n.-132-3_-132-1delinsCAG
NM_001368144.1:c.-132-3_-132-1delinsCAG	NP_001355073.1:n.-132-3_-132-1delinsCAG
NM_001128590.4:c.203-22_203-20delinsCAG	NP_001122062.3:n.203-22_203-20delinsCAG
NM_001368143.2:c.-132-3_-132-1delinsCAG	NP_001355072.1:n.-132-3_-132-1delinsCAG
NM_001368144.2:c.-132-3_-132-1delinsCAG	NP_001355073.1:n.-132-3_-132-1delinsCAG