Canonical Allele Identifier: CA214451

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 93160
• ClinVar RCV Id: RCV000079017 ; RCV000711375
• dbSNP Id: rs61338903
• ExAC: 6:32006214 CCTG / C
• gnomAD v2: 6-32006214-CCTG-C
• gnomAD v3: 6-32038437-CCTG-C
• gnomAD v4: 6-32038437-CCTG-C
• COSMIC: COSM1077762
• MyVariant Identifiers: chr6:g.32006228_32006230del (hg19) ; chr6:g.32006215_32006217del (hg19) ; chr6:g.32006228_32006230delTGC (hg19) ; chr6:g.32038451_32038453del (hg38) ; chr6:g.32038439_32038441del (hg38) ; chr6:g.32038438_32038440del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038451_32038453del , CM000668.2:g.32038451_32038453del	GRCh38
NC_000006.11:g.32006228_32006230del , CM000668.1:g.32006228_32006230del	GRCh37
NC_000006.10:g.32114207_32114209del	NCBI36
NG_007941.3:g.5147_5149del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.29_31del MANE Select	ENSP00000496625.1:p.Leu10del
ENST00000418967.6:c.29_31del	ENSP00000408860.2:p.Leu10del
ENST00000435122.3:c.29_31del	ENSP00000415043.2:p.Leu10del
ENST00000466779.5:c.29_31del	ENSP00000417321.1:p.Leu10del
ENST00000469053.5:c.29_31del	ENSP00000418104.1:p.Leu10del
ENST00000471671.4:c.29_31del	ENSP00000418561.1:p.Leu10del
ENST00000478281.5:c.29_31del	ENSP00000419572.1:p.Leu10del
ENST00000479074.5:n.87_89del
ENST00000479730.5:n.87_89del
ENST00000480027.1:n.82_84del
ENST00000483041.5:n.82_84del
ENST00000486063.5:n.112_114del
ENST00000488465.1:n.37_39del
NM_000500.7:c.29_31del	NP_000491.4:p.Leu10del
NM_001128590.3:c.29_31del	NP_001122062.3:p.Leu10del
XM_011514314.1:c.-396_-394del	XP_011512616.1:n.-396_-394del
NM_000500.9:c.29_31del MANE Select	NP_000491.4:p.Leu10del
NM_001368143.1:c.-396_-394del	NP_001355072.1:n.-396_-394del
NM_001368144.1:c.-306_-304del	NP_001355073.1:n.-306_-304del
NM_001128590.4:c.29_31del	NP_001122062.3:p.Leu10del
NM_001368143.2:c.-396_-394del	NP_001355072.1:n.-396_-394del
NM_001368144.2:c.-306_-304del	NP_001355073.1:n.-306_-304del