Canonical Allele Identifier: CA823931846

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1355952334
• gnomAD v3: 6-32040764-CT-C
• gnomAD v4: 6-32040764-CT-C
• MyVariant Identifiers: chr6:g.32008542del (hg19) ; chr6:g.32040765del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040765del , CM000668.2:g.32040765del	GRCh38
NC_000006.11:g.32008542del , CM000668.1:g.32008542del	GRCh37
NC_000006.10:g.32116521del	NCBI36
NG_007941.2:g.7458del
NG_008337.2:g.73610del
NG_007941.3:g.7461del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1216del MANE Select	ENSP00000496625.1:p.Trp406GlyfsTer?
ENST00000418967.6:c.1216del	ENSP00000408860.2:p.Trp406GlyfsTer?
ENST00000435122.3:c.1126del	ENSP00000415043.2:p.Trp376GlyfsTer?
ENST00000479074.5:n.1357del
ENST00000479730.5:n.1332del
ENST00000483041.5:n.1385del
ENST00000486063.5:n.1195del
NM_000500.7:c.1216del	NP_000491.4:p.Trp406GlyfsTer?
NM_001128590.3:c.1126del	NP_001122062.3:p.Trp376GlyfsTer?
XM_011514314.1:c.811del	XP_011512616.1:p.Trp271GlyfsTer?
NM_000500.9:c.1216del MANE Select	NP_000491.4:p.Trp406GlyfsTer?
NM_001368143.1:c.811del	NP_001355072.1:p.Trp271GlyfsTer?
NM_001368144.1:c.811del	NP_001355073.1:p.Trp271GlyfsTer?
NM_001128590.4:c.1126del	NP_001122062.3:p.Trp376GlyfsTer?
NM_001368143.2:c.811del	NP_001355072.1:p.Trp271GlyfsTer?
NM_001368144.2:c.811del	NP_001355073.1:p.Trp271GlyfsTer?