Canonical Allele Identifier: CA2678091262

Gene: CYP21A2 TNXB

Linked Data

• gnomAD v4: 6-32041201-CCTCCCCCCTGTAAACACAGTGCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041203_32041226del , CM000668.2:g.32041203_32041226del	GRCh38
NC_000006.11:g.32008980_32009003del , CM000668.1:g.32008980_32009003del	GRCh37
NC_000006.10:g.32116959_32116982del	NCBI36
NG_007941.2:g.7896_7919del
NG_008337.2:g.73150_73173del
NG_007941.3:g.7899_7922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.*69_*92del (CYP21A2) MANE Select	ENSP00000496625.1:n.*69_*92del
ENST00000644971.2:c.*124_*147del (TNXB) MANE Select	ENSP00000496448.1:n.*124_*147del
ENST00000647633.1:c.*124_*147del (TNXB)	ENSP00000497649.1:n.*124_*147del
ENST00000375244.7:c.*124_*147del (TNXB)	ENSP00000364393.3:n.*124_*147del
ENST00000418967.6:c.*69_*92del (CYP21A2)	ENSP00000408860.2:n.*69_*92del
ENST00000435122.3:c.*69_*92del (CYP21A2)	ENSP00000415043.2:n.*69_*92del
ENST00000451343.4:c.*124_*147del (TNXB)	ENSP00000407685.1:n.*124_*147del
ENST00000479074.5:n.1698_1721del (CYP21A2)
ENST00000479730.5:n.1673_1696del (CYP21A2)
ENST00000486063.5:n.1536_1559del (CYP21A2)
ENST00000490077.5:n.2686_2709del (TNXB)
ENST00000611016.2:c.6013_6036del (TNXB)	ENSP00000483409.1:n.6013_6036del
NM_000500.7:c.*69_*92del (CYP21A2)	NP_000491.4:n.*69_*92del
NM_001128590.3:c.*69_*92del (CYP21A2)	NP_001122062.3:n.*69_*92del
NM_019105.6:c.*124_*147del (TNXB)	NP_061978.6:n.*124_*147del
NM_032470.3:c.*124_*147del (TNXB)	NP_115859.2:n.*124_*147del
XM_011514314.1:c.*69_*92del (CYP21A2)	XP_011512616.1:n.*69_*92del
NM_000500.9:c.*69_*92del (CYP21A2) MANE Select	NP_000491.4:n.*69_*92del
NM_001365276.1:c.*124_*147del (TNXB)	NP_001352205.1:n.*124_*147del
NM_019105.7:c.*124_*147del (TNXB)	NP_061978.6:n.*124_*147del
NM_001365276.2:c.*124_*147del (TNXB) MANE Select	NP_001352205.1:n.*124_*147del
NM_001368143.1:c.*69_*92del (CYP21A2)	NP_001355072.1:n.*69_*92del
NM_001368144.1:c.*69_*92del (CYP21A2)	NP_001355073.1:n.*69_*92del
NM_019105.8:c.*124_*147del (TNXB)	NP_061978.6:n.*124_*147del
NM_001128590.4:c.*69_*92del (CYP21A2)	NP_001122062.3:n.*69_*92del
NM_001368143.2:c.*69_*92del (CYP21A2)	NP_001355072.1:n.*69_*92del
NM_001368144.2:c.*69_*92del (CYP21A2)	NP_001355073.1:n.*69_*92del
NM_032470.4:c.*124_*147del (TNXB)	NP_115859.2:n.*124_*147del