Canonical Allele Identifier: CA2678088923

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039066-A-ACCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039069_32039070insCCCCCCCCCCCCCC , CM000668.2:g.32039069_32039070insCCCCCCCCCCCCCC	GRCh38
NC_000006.11:g.32006846_32006847insCCCCCCCCCCCCCC , CM000668.1:g.32006846_32006847insCCCCCCCCCCCCCC	GRCh37
NC_000006.10:g.32114825_32114826insCCCCCCCCCCCCCC	NCBI36
NG_007941.2:g.5762_5763insCCCCCCCCCCCCCC
NG_007941.3:g.5765_5766insCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.293-25_293-24insCCCCCCCCCCCCCC MANE Select	ENSP00000496625.1:n.293-25_293-24insCCCCCCCCCCCCCC
ENST00000418967.6:c.293-25_293-24insCCCCCCCCCCCCCC	ENSP00000408860.2:n.293-25_293-24insCCCCCCCCCCCCCC
ENST00000435122.3:c.203-25_203-24insCCCCCCCCCCCCCC	ENSP00000415043.2:n.203-25_203-24insCCCCCCCCCCCCCC
ENST00000464325.5:n.230-41_230-40insCCCCCCCCCCCCCC
ENST00000466779.5:c.293-6_293-5insCCCCCCCCCCCCCC	ENSP00000417321.1:n.293-6_293-5insCCCCCCCCCCCCCC
ENST00000466879.5:n.319_320insCCCCCCCCCCCCCC
ENST00000469053.5:c.203-6_203-5insCCCCCCCCCCCCCC	ENSP00000418104.1:n.203-6_203-5insCCCCCCCCCCCCCC
ENST00000471671.4:c.293-25_293-24insCCCCCCCCCCCCCC	ENSP00000418561.1:n.293-25_293-24insCCCCCCCCCCCCCC
ENST00000478281.5:c.301_302insCCCCCCCCCCCCCC	ENSP00000419572.1:p.Leu101ProfsTer?
ENST00000479074.5:n.351-25_351-24insCCCCCCCCCCCCCC
ENST00000479730.5:n.448-25_448-24insCCCCCCCCCCCCCC
ENST00000480027.1:n.603_604insCCCCCCCCCCCCCC
ENST00000483041.5:n.443-6_443-5insCCCCCCCCCCCCCC
ENST00000486063.5:n.473-25_473-24insCCCCCCCCCCCCCC
ENST00000488465.1:n.301-25_301-24insCCCCCCCCCCCCCC
NM_000500.7:c.293-25_293-24insCCCCCCCCCCCCCC	NP_000491.4:n.293-25_293-24insCCCCCCCCCCCCCC
NM_001128590.3:c.203-25_203-24insCCCCCCCCCCCCCC	NP_001122062.3:n.203-25_203-24insCCCCCCCCCCCCCC
XM_011514314.1:c.-132-6_-132-5insCCCCCCCCCCCCCC	XP_011512616.1:n.-132-6_-132-5insCCCCCCCCCCCCCC
NM_000500.9:c.293-25_293-24insCCCCCCCCCCCCCC MANE Select	NP_000491.4:n.293-25_293-24insCCCCCCCCCCCCCC
NM_001368143.1:c.-132-6_-132-5insCCCCCCCCCCCCCC	NP_001355072.1:n.-132-6_-132-5insCCCCCCCCCCCCCC
NM_001368144.1:c.-132-6_-132-5insCCCCCCCCCCCCCC	NP_001355073.1:n.-132-6_-132-5insCCCCCCCCCCCCCC
NM_001128590.4:c.203-25_203-24insCCCCCCCCCCCCCC	NP_001122062.3:n.203-25_203-24insCCCCCCCCCCCCCC
NM_001368143.2:c.-132-6_-132-5insCCCCCCCCCCCCCC	NP_001355072.1:n.-132-6_-132-5insCCCCCCCCCCCCCC
NM_001368144.2:c.-132-6_-132-5insCCCCCCCCCCCCCC	NP_001355073.1:n.-132-6_-132-5insCCCCCCCCCCCCCC