Canonical Allele Identifier: CA256233

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 12157
• ClinVar RCV Id: RCV000012941 ; RCV000711372 ; RCV003904830
• dbSNP Id: rs397509367
• MyVariant Identifiers: chr6:g.32008874_32008875delinsC (hg19) ; chr6:g.32041097_32041098delinsC (hg38)
• PubMed: PMID:1496017

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041097_32041098delinsC , CM000668.2:g.32041097_32041098delinsC	GRCh38
NC_000006.11:g.32008874_32008875delinsC , CM000668.1:g.32008874_32008875delinsC	GRCh37
NC_000006.10:g.32116853_32116854delinsC	NCBI36
NG_007941.2:g.7790_7791delinsC
NG_008337.2:g.73277_73278delinsG
NG_007941.3:g.7793_7794delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1451_1452delinsC MANE Select	ENSP00000496625.1:p.Arg484ProfsTer?
ENST00000418967.6:c.1451_1452delinsC	ENSP00000408860.2:p.Arg484ProfsTer?
ENST00000435122.3:c.1361_1362delinsC	ENSP00000415043.2:p.Arg454ProfsTer?
ENST00000479074.5:n.1592_1593delinsC
ENST00000479730.5:n.1567_1568delinsC
ENST00000483041.5:n.1620_1621delinsC
ENST00000486063.5:n.1430_1431delinsC
NM_000500.7:c.1451_1452delinsC	NP_000491.4:p.Arg484ProfsTer?
NM_001128590.3:c.1361_1362delinsC	NP_001122062.3:p.Arg454ProfsTer?
XM_011514314.1:c.1046_1047delinsC	XP_011512616.1:p.Arg349ProfsTer?
NM_000500.9:c.1451_1452delinsC MANE Select	NP_000491.4:p.Arg484ProfsTer?
NM_001368143.1:c.1046_1047delinsC	NP_001355072.1:p.Arg349ProfsTer?
NM_001368144.1:c.1046_1047delinsC	NP_001355073.1:p.Arg349ProfsTer?
NM_001128590.4:c.1361_1362delinsC	NP_001122062.3:p.Arg454ProfsTer?
NM_001368143.2:c.1046_1047delinsC	NP_001355072.1:p.Arg349ProfsTer?
NM_001368144.2:c.1046_1047delinsC	NP_001355073.1:p.Arg349ProfsTer?