Canonical Allele Identifier: CA566693894

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1244223783
• gnomAD v2: 6-32007377-TG-T
• MyVariant Identifiers: chr6:g.32007378del (hg19) ; chr6:g.32039601del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039602del , CM000668.2:g.32039602del	GRCh38
NC_000006.11:g.32007379del , CM000668.1:g.32007379del	GRCh37
NC_000006.10:g.32115358del	NCBI36
NG_007941.2:g.6295del
NG_008337.2:g.74774del
NG_007941.3:g.6298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.606del MANE Select	ENSP00000496625.1:p.Trp202Ter
ENST00000418967.6:c.606del	ENSP00000408860.2:p.Trp202Ter
ENST00000435122.3:c.516del	ENSP00000415043.2:p.Trp172Ter
ENST00000462278.1:n.194del
ENST00000464325.5:n.527del
ENST00000466779.5:c.*298del	ENSP00000417321.1:n.*298del
ENST00000466879.5:n.657del
ENST00000469053.5:c.*298del	ENSP00000418104.1:n.*298del
ENST00000471671.4:c.567del	ENSP00000418561.1:p.Trp189Ter
ENST00000479074.5:n.664del
ENST00000479730.5:n.722del
ENST00000483041.5:n.775del
ENST00000486063.5:n.786del
NM_000500.7:c.606del	NP_000491.4:p.Trp202Ter
NM_001128590.3:c.516del	NP_001122062.3:p.Trp172Ter
XM_011514314.1:c.201del	XP_011512616.1:p.Trp67Ter
NM_000500.9:c.606del MANE Select	NP_000491.4:p.Trp202Ter
NM_001368143.1:c.201del	NP_001355072.1:p.Trp67Ter
NM_001368144.1:c.201del	NP_001355073.1:p.Trp67Ter
NM_001128590.4:c.516del	NP_001122062.3:p.Trp172Ter
NM_001368143.2:c.201del	NP_001355072.1:p.Trp67Ter
NM_001368144.2:c.201del	NP_001355073.1:p.Trp67Ter