Canonical Allele Identifier: CA363506772

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 375323
• ClinVar RCV Id: RCV000416339
• dbSNP Id: rs1057519068
• MyVariant Identifiers: chr6:g.32007873_32007884del (hg19) ; chr6:g.32040096_32040107del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040096_32040107del , CM000668.2:g.32040096_32040107del	GRCh38
NC_000006.11:g.32007873_32007884del , CM000668.1:g.32007873_32007884del	GRCh37
NC_000006.10:g.32115852_32115863del	NCBI36
NG_007941.2:g.6789_6800del
NG_008337.2:g.74270_74281del
NG_007941.3:g.6792_6803del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.830_841del MANE Select	ENSP00000496625.1:p.Leu277_Gly280del
ENST00000418967.6:c.830_841del	ENSP00000408860.2:p.Leu277_Gly280del
ENST00000435122.3:c.740_751del	ENSP00000415043.2:p.Leu247_Gly250del
ENST00000479074.5:n.888_899del
ENST00000479730.5:n.946_957del
ENST00000483041.5:n.999_1010del
ENST00000486063.5:n.918+261_918+272del
NM_000500.7:c.830_841del	NP_000491.4:p.Leu277_Gly280del
NM_001128590.3:c.740_751del	NP_001122062.3:p.Leu247_Gly250del
XM_011514314.1:c.425_436del	XP_011512616.1:p.Leu142_Gly145del
NM_000500.9:c.830_841del MANE Select	NP_000491.4:p.Leu277_Gly280del
NM_001368143.1:c.425_436del	NP_001355072.1:p.Leu142_Gly145del
NM_001368144.1:c.425_436del	NP_001355073.1:p.Leu142_Gly145del
NM_001128590.4:c.740_751del	NP_001122062.3:p.Leu247_Gly250del
NM_001368143.2:c.425_436del	NP_001355072.1:p.Leu142_Gly145del
NM_001368144.2:c.425_436del	NP_001355073.1:p.Leu142_Gly145del