Canonical Allele Identifier: CA1619399851

Gene: CYP21A2 TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041177_32041178delinsTA , CM000668.2:g.32041177_32041178delinsTA	GRCh38
NC_000006.11:g.32008954_32008955delinsTA , CM000668.1:g.32008954_32008955delinsTA	GRCh37
NC_000006.10:g.32116933_32116934delinsTA	NCBI36
NG_007941.2:g.7870_7871delinsTA
NG_008337.2:g.73197_73198delinsTA
NG_007941.3:g.7873_7874delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.*43_*44delinsTA (CYP21A2) MANE Select	ENSP00000496625.1:n.*43_*44delinsTA
ENST00000644971.2:c.*171_*172delinsTA (TNXB) MANE Select	ENSP00000496448.1:n.*171_*172delinsTA
ENST00000647633.1:c.*171_*172delinsTA (TNXB)	ENSP00000497649.1:n.*171_*172delinsTA
ENST00000375244.7:c.*171_*172delinsTA (TNXB)	ENSP00000364393.3:n.*171_*172delinsTA
ENST00000418967.6:c.*43_*44delinsTA (CYP21A2)	ENSP00000408860.2:n.*43_*44delinsTA
ENST00000435122.3:c.*43_*44delinsTA (CYP21A2)	ENSP00000415043.2:n.*43_*44delinsTA
ENST00000451343.4:c.*171_*172delinsTA (TNXB)	ENSP00000407685.1:n.*171_*172delinsTA
ENST00000479074.5:n.1672_1673delinsTA (CYP21A2)
ENST00000479730.5:n.1647_1648delinsTA (CYP21A2)
ENST00000483041.5:n.1700_1701delinsTA (CYP21A2)
ENST00000486063.5:n.1510_1511delinsTA (CYP21A2)
ENST00000490077.5:n.2733_2734delinsTA (TNXB)
ENST00000611016.2:c.6060_6061delinsTA (TNXB)	ENSP00000483409.1:n.6060_6061delinsTA
NM_000500.7:c.*43_*44delinsTA (CYP21A2)	NP_000491.4:n.*43_*44delinsTA
NM_001128590.3:c.*43_*44delinsTA (CYP21A2)	NP_001122062.3:n.*43_*44delinsTA
NM_019105.6:c.*171_*172delinsTA (TNXB)	NP_061978.6:n.*171_*172delinsTA
NM_032470.3:c.*171_*172delinsTA (TNXB)	NP_115859.2:n.*171_*172delinsTA
XM_011514314.1:c.*43_*44delinsTA (CYP21A2)	XP_011512616.1:n.*43_*44delinsTA
NM_000500.9:c.*43_*44delinsTA (CYP21A2) MANE Select	NP_000491.4:n.*43_*44delinsTA
NM_001365276.1:c.*171_*172delinsTA (TNXB)	NP_001352205.1:n.*171_*172delinsTA
NM_019105.7:c.*171_*172delinsTA (TNXB)	NP_061978.6:n.*171_*172delinsTA
NM_001365276.2:c.*171_*172delinsTA (TNXB) MANE Select	NP_001352205.1:n.*171_*172delinsTA
NM_001368143.1:c.*43_*44delinsTA (CYP21A2)	NP_001355072.1:n.*43_*44delinsTA
NM_001368144.1:c.*43_*44delinsTA (CYP21A2)	NP_001355073.1:n.*43_*44delinsTA
NM_019105.8:c.*171_*172delinsTA (TNXB)	NP_061978.6:n.*171_*172delinsTA
NM_001128590.4:c.*43_*44delinsTA (CYP21A2)	NP_001122062.3:n.*43_*44delinsTA
NM_001368143.2:c.*43_*44delinsTA (CYP21A2)	NP_001355072.1:n.*43_*44delinsTA
NM_001368144.2:c.*43_*44delinsTA (CYP21A2)	NP_001355073.1:n.*43_*44delinsTA
NM_032470.4:c.*171_*172delinsTA (TNXB)	NP_115859.2:n.*171_*172delinsTA