Canonical Allele Identifier: CA566694921

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776176747
• gnomAD v2: 6-32007844-GC-G
• gnomAD v4: 6-32040067-GC-G
• MyVariant Identifiers: chr6:g.32007845del (hg19) ; chr6:g.32040068del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040069del , CM000668.2:g.32040069del	GRCh38
NC_000006.11:g.32007846del , CM000668.1:g.32007846del	GRCh37
NC_000006.10:g.32115825del	NCBI36
NG_007941.2:g.6762del
NG_008337.2:g.74307del
NG_007941.3:g.6765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.803del MANE Select	ENSP00000496625.1:p.Pro268ArgfsTer23
ENST00000418967.6:c.803del	ENSP00000408860.2:p.Pro268ArgfsTer23
ENST00000435122.3:c.713del	ENSP00000415043.2:p.Pro238ArgfsTer23
ENST00000479074.5:n.861del
ENST00000479730.5:n.919del
ENST00000483041.5:n.972del
ENST00000486063.5:n.918+234del
NM_000500.7:c.803del	NP_000491.4:p.Pro268ArgfsTer23
NM_001128590.3:c.713del	NP_001122062.3:p.Pro238ArgfsTer23
XM_011514314.1:c.398del	XP_011512616.1:p.Pro133ArgfsTer23
NM_000500.9:c.803del MANE Select	NP_000491.4:p.Pro268ArgfsTer23
NM_001368143.1:c.398del	NP_001355072.1:p.Pro133ArgfsTer23
NM_001368144.1:c.398del	NP_001355073.1:p.Pro133ArgfsTer23
NM_001128590.4:c.713del	NP_001122062.3:p.Pro238ArgfsTer23
NM_001368143.2:c.398del	NP_001355072.1:p.Pro133ArgfsTer23
NM_001368144.2:c.398del	NP_001355073.1:p.Pro133ArgfsTer23