Canonical Allele Identifier: CA891842677

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 585749
• ClinVar RCV Id: RCV000711370
• dbSNP Id: rs1562764272
• MyVariant Identifiers: chr6:g.32008766_32008783del (hg19) ; chr6:g.32040989_32041006del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040989_32041006del , CM000668.2:g.32040989_32041006del	GRCh38
NC_000006.11:g.32008766_32008783del , CM000668.1:g.32008766_32008783del	GRCh37
NC_000006.10:g.32116745_32116762del	NCBI36
NG_007941.2:g.7682_7699del
NG_008337.2:g.73376_73393del
NG_007941.3:g.7685_7702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1343_1360del MANE Select	ENSP00000496625.1:p.Gln448_Leu453del
ENST00000418967.6:c.1343_1360del	ENSP00000408860.2:p.Gln448_Leu453del
ENST00000435122.3:c.1253_1270del	ENSP00000415043.2:p.Gln418_Leu423del
ENST00000479074.5:n.1484_1501del
ENST00000479730.5:n.1459_1476del
ENST00000483041.5:n.1512_1529del
ENST00000486063.5:n.1322_1339del
NM_000500.7:c.1343_1360del	NP_000491.4:p.Gln448_Leu453del
NM_001128590.3:c.1253_1270del	NP_001122062.3:p.Gln418_Leu423del
XM_011514314.1:c.938_955del	XP_011512616.1:p.Gln313_Leu318del
NM_000500.9:c.1343_1360del MANE Select	NP_000491.4:p.Gln448_Leu453del
NM_001368143.1:c.938_955del	NP_001355072.1:p.Gln313_Leu318del
NM_001368144.1:c.938_955del	NP_001355073.1:p.Gln313_Leu318del
NM_001128590.4:c.1253_1270del	NP_001122062.3:p.Gln418_Leu423del
NM_001368143.2:c.938_955del	NP_001355072.1:p.Gln313_Leu318del
NM_001368144.2:c.938_955del	NP_001355073.1:p.Gln313_Leu318del