Canonical Allele Identifier: CA2711460741

Gene: CYP21A2

Linked Data

• dbSNP Id: rs2151875233

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040481_32040482del , CM000668.2:g.32040481_32040482del	GRCh38
NC_000006.11:g.32008258_32008259del , CM000668.1:g.32008258_32008259del	GRCh37
NC_000006.10:g.32116237_32116238del	NCBI36
NG_007941.2:g.7174_7175del
NG_008337.2:g.73893_73894del
NG_007941.3:g.7177_7178del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1015_1016del MANE Select	ENSP00000496625.1:p.Asp339ProfsTer?
ENST00000418967.6:c.1015_1016del	ENSP00000408860.2:p.Asp339ProfsTer?
ENST00000435122.3:c.925_926del	ENSP00000415043.2:p.Asp309ProfsTer?
ENST00000479074.5:n.1073_1074del
ENST00000479730.5:n.1131_1132del
ENST00000483041.5:n.1184_1185del
ENST00000486063.5:n.994_995del
NM_000500.7:c.1015_1016del	NP_000491.4:p.Asp339ProfsTer?
NM_001128590.3:c.925_926del	NP_001122062.3:p.Asp309ProfsTer?
XM_011514314.1:c.610_611del	XP_011512616.1:p.Asp204ProfsTer?
NM_000500.9:c.1015_1016del MANE Select	NP_000491.4:p.Asp339ProfsTer?
NM_001368143.1:c.610_611del	NP_001355072.1:p.Asp204ProfsTer?
NM_001368144.1:c.610_611del	NP_001355073.1:p.Asp204ProfsTer?
NM_001128590.4:c.925_926del	NP_001122062.3:p.Asp309ProfsTer?
NM_001368143.2:c.610_611del	NP_001355072.1:p.Asp204ProfsTer?
NM_001368144.2:c.610_611del	NP_001355073.1:p.Asp204ProfsTer?