Canonical Allele Identifier: CA2770519929

Gene: CYP21A2 TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041210_32041213del , CM000668.2:g.32041210_32041213del	GRCh38
NC_000006.11:g.32008987_32008990del , CM000668.1:g.32008987_32008990del	GRCh37
NC_000006.10:g.32116966_32116969del	NCBI36
NG_007941.2:g.7903_7906del
NG_008337.2:g.73162_73165del
NG_007941.3:g.7906_7909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.*76_*79del (CYP21A2) MANE Select	ENSP00000496625.1:n.*76_*79del
ENST00000644971.2:c.*136_*139del (TNXB) MANE Select	ENSP00000496448.1:n.*136_*139del
ENST00000647633.1:c.*136_*139del (TNXB)	ENSP00000497649.1:n.*136_*139del
ENST00000375244.7:c.*136_*139del (TNXB)	ENSP00000364393.3:n.*136_*139del
ENST00000418967.6:c.*76_*79del (CYP21A2)	ENSP00000408860.2:n.*76_*79del
ENST00000435122.3:c.*76_*79del (CYP21A2)	ENSP00000415043.2:n.*76_*79del
ENST00000451343.4:c.*136_*139del (TNXB)	ENSP00000407685.1:n.*136_*139del
ENST00000479074.5:n.1705_1708del (CYP21A2)
ENST00000479730.5:n.1680_1683del (CYP21A2)
ENST00000486063.5:n.1543_1546del (CYP21A2)
ENST00000490077.5:n.2698_2701del (TNXB)
ENST00000611016.2:c.6025_6028del (TNXB)	ENSP00000483409.1:n.6025_6028del
NM_000500.7:c.*76_*79del (CYP21A2)	NP_000491.4:n.*76_*79del
NM_001128590.3:c.*76_*79del (CYP21A2)	NP_001122062.3:n.*76_*79del
NM_019105.6:c.*136_*139del (TNXB)	NP_061978.6:n.*136_*139del
NM_032470.3:c.*136_*139del (TNXB)	NP_115859.2:n.*136_*139del
XM_011514314.1:c.*76_*79del (CYP21A2)	XP_011512616.1:n.*76_*79del
NM_000500.9:c.*76_*79del (CYP21A2) MANE Select	NP_000491.4:n.*76_*79del
NM_001365276.1:c.*136_*139del (TNXB)	NP_001352205.1:n.*136_*139del
NM_019105.7:c.*136_*139del (TNXB)	NP_061978.6:n.*136_*139del
NM_001365276.2:c.*136_*139del (TNXB) MANE Select	NP_001352205.1:n.*136_*139del
NM_001368143.1:c.*76_*79del (CYP21A2)	NP_001355072.1:n.*76_*79del
NM_001368144.1:c.*76_*79del (CYP21A2)	NP_001355073.1:n.*76_*79del
NM_019105.8:c.*136_*139del (TNXB)	NP_061978.6:n.*136_*139del
NM_001128590.4:c.*76_*79del (CYP21A2)	NP_001122062.3:n.*76_*79del
NM_001368143.2:c.*76_*79del (CYP21A2)	NP_001355072.1:n.*76_*79del
NM_001368144.2:c.*76_*79del (CYP21A2)	NP_001355073.1:n.*76_*79del
NM_032470.4:c.*136_*139del (TNXB)	NP_115859.2:n.*136_*139del