Canonical Allele Identifier: CA823930831

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1183752139
• gnomAD v3: 6-32039771-GGA-G
• gnomAD v4: 6-32039771-GGA-G
• MyVariant Identifiers: chr6:g.32007549_32007550del (hg19) ; chr6:g.32039772_32039773del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039773_32039774del , CM000668.2:g.32039773_32039774del	GRCh38
NC_000006.11:g.32007550_32007551del , CM000668.1:g.32007550_32007551del	GRCh37
NC_000006.10:g.32115529_32115530del	NCBI36
NG_007941.2:g.6466_6467del
NG_008337.2:g.74602_74603del
NG_007941.3:g.6469_6470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.676_677del MANE Select	ENSP00000496625.1:p.Arg226AlafsTer?
ENST00000418967.6:c.676_677del	ENSP00000408860.2:p.Arg226AlafsTer?
ENST00000435122.3:c.586_587del	ENSP00000415043.2:p.Arg196AlafsTer?
ENST00000462278.1:n.365_366del
ENST00000466779.5:c.*368_*369del	ENSP00000417321.1:n.*368_*369del
ENST00000466879.5:n.727_728del
ENST00000479074.5:n.734_735del
ENST00000479730.5:n.792_793del
ENST00000483041.5:n.845_846del
ENST00000486063.5:n.856_857del
NM_000500.7:c.676_677del	NP_000491.4:p.Arg226AlafsTer?
NM_001128590.3:c.586_587del	NP_001122062.3:p.Arg196AlafsTer?
XM_011514314.1:c.271_272del	XP_011512616.1:p.Arg91AlafsTer?
NM_000500.9:c.676_677del MANE Select	NP_000491.4:p.Arg226AlafsTer?
NM_001368143.1:c.271_272del	NP_001355072.1:p.Arg91AlafsTer?
NM_001368144.1:c.271_272del	NP_001355073.1:p.Arg91AlafsTer?
NM_001128590.4:c.586_587del	NP_001122062.3:p.Arg196AlafsTer?
NM_001368143.2:c.271_272del	NP_001355072.1:p.Arg91AlafsTer?
NM_001368144.2:c.271_272del	NP_001355073.1:p.Arg91AlafsTer?