Canonical Allele Identifier: CA2678089346

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040464-CCCGGGTCCCCTACAAGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040468_32040485del , CM000668.2:g.32040468_32040485del	GRCh38
NC_000006.11:g.32008245_32008262del , CM000668.1:g.32008245_32008262del	GRCh37
NC_000006.10:g.32116224_32116241del	NCBI36
NG_007941.2:g.7161_7178del
NG_008337.2:g.73893_73910del
NG_007941.3:g.7164_7181del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1002_1019del MANE Select	ENSP00000496625.1:p.Val335_Arg340del
ENST00000418967.6:c.1002_1019del	ENSP00000408860.2:p.Val335_Arg340del
ENST00000435122.3:c.912_929del	ENSP00000415043.2:p.Val305_Arg310del
ENST00000479074.5:n.1060_1077del
ENST00000479730.5:n.1118_1135del
ENST00000483041.5:n.1171_1188del
ENST00000486063.5:n.981_998del
NM_000500.7:c.1002_1019del	NP_000491.4:p.Val335_Arg340del
NM_001128590.3:c.912_929del	NP_001122062.3:p.Val305_Arg310del
XM_011514314.1:c.597_614del	XP_011512616.1:p.Val200_Arg205del
NM_000500.9:c.1002_1019del MANE Select	NP_000491.4:p.Val335_Arg340del
NM_001368143.1:c.597_614del	NP_001355072.1:p.Val200_Arg205del
NM_001368144.1:c.597_614del	NP_001355073.1:p.Val200_Arg205del
NM_001128590.4:c.912_929del	NP_001122062.3:p.Val305_Arg310del
NM_001368143.2:c.597_614del	NP_001355072.1:p.Val200_Arg205del
NM_001368144.2:c.597_614del	NP_001355073.1:p.Val200_Arg205del