Canonical Allele Identifier: CA2678088970

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039073-A-ACCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039073_32039074insCCCCC , CM000668.2:g.32039073_32039074insCCCCC	GRCh38
NC_000006.11:g.32006850_32006851insCCCCC , CM000668.1:g.32006850_32006851insCCCCC	GRCh37
NC_000006.10:g.32114829_32114830insCCCCC	NCBI36
NG_007941.2:g.5766_5767insCCCCC
NG_007941.3:g.5769_5770insCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.293-21_293-20insCCCCC MANE Select	ENSP00000496625.1:n.293-21_293-20insCCCCC
ENST00000418967.6:c.293-21_293-20insCCCCC	ENSP00000408860.2:n.293-21_293-20insCCCCC
ENST00000435122.3:c.203-21_203-20insCCCCC	ENSP00000415043.2:n.203-21_203-20insCCCCC
ENST00000464325.5:n.230-37_230-36insCCCCC
ENST00000466779.5:c.293-2_293-1insCCCCC	ENSP00000417321.1:n.293-2_293-1insCCCCC
ENST00000466879.5:n.323_324insCCCCC
ENST00000469053.5:c.203-2_203-1insCCCCC	ENSP00000418104.1:n.203-2_203-1insCCCCC
ENST00000471671.4:c.293-21_293-20insCCCCC	ENSP00000418561.1:n.293-21_293-20insCCCCC
ENST00000478281.5:c.305_306insCCCCC	ENSP00000419572.1:p.Gln102HisfsTer?
ENST00000479074.5:n.351-21_351-20insCCCCC
ENST00000479730.5:n.448-21_448-20insCCCCC
ENST00000480027.1:n.607_608insCCCCC
ENST00000483041.5:n.443-2_443-1insCCCCC
ENST00000486063.5:n.473-21_473-20insCCCCC
ENST00000488465.1:n.301-21_301-20insCCCCC
NM_000500.7:c.293-21_293-20insCCCCC	NP_000491.4:n.293-21_293-20insCCCCC
NM_001128590.3:c.203-21_203-20insCCCCC	NP_001122062.3:n.203-21_203-20insCCCCC
XM_011514314.1:c.-132-2_-132-1insCCCCC	XP_011512616.1:n.-132-2_-132-1insCCCCC
NM_000500.9:c.293-21_293-20insCCCCC MANE Select	NP_000491.4:n.293-21_293-20insCCCCC
NM_001368143.1:c.-132-2_-132-1insCCCCC	NP_001355072.1:n.-132-2_-132-1insCCCCC
NM_001368144.1:c.-132-2_-132-1insCCCCC	NP_001355073.1:n.-132-2_-132-1insCCCCC
NM_001128590.4:c.203-21_203-20insCCCCC	NP_001122062.3:n.203-21_203-20insCCCCC
NM_001368143.2:c.-132-2_-132-1insCCCCC	NP_001355072.1:n.-132-2_-132-1insCCCCC
NM_001368144.2:c.-132-2_-132-1insCCCCC	NP_001355073.1:n.-132-2_-132-1insCCCCC