Canonical Allele Identifier: CA915944197

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 623476
• ClinVar RCV Id: RCV000850240
• dbSNP Id: rs1582309414

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040427_32040429del , CM000668.2:g.32040427_32040429del	GRCh38
NC_000006.11:g.32008204_32008206del , CM000668.1:g.32008204_32008206del	GRCh37
NC_000006.10:g.32116183_32116185del	NCBI36
NG_007941.2:g.7120_7122del
NG_008337.2:g.73951_73953del
NG_007941.3:g.7123_7125del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.961_963del MANE Select	ENSP00000496625.1:p.Glu321del
ENST00000418967.6:c.961_963del	ENSP00000408860.2:p.Glu321del
ENST00000435122.3:c.871_873del	ENSP00000415043.2:p.Glu291del
ENST00000479074.5:n.1019_1021del
ENST00000479730.5:n.1077_1079del
ENST00000483041.5:n.1130_1132del
ENST00000486063.5:n.940_942del
NM_000500.7:c.961_963del	NP_000491.4:p.Glu321del
NM_001128590.3:c.871_873del	NP_001122062.3:p.Glu291del
XM_011514314.1:c.556_558del	XP_011512616.1:p.Glu186del
NM_000500.9:c.961_963del MANE Select	NP_000491.4:p.Glu321del
NM_001368143.1:c.556_558del	NP_001355072.1:p.Glu186del
NM_001368144.1:c.556_558del	NP_001355073.1:p.Glu186del
NM_001128590.4:c.871_873del	NP_001122062.3:p.Glu291del
NM_001368143.2:c.556_558del	NP_001355072.1:p.Glu186del
NM_001368144.2:c.556_558del	NP_001355073.1:p.Glu186del