Canonical Allele Identifier: CA2678088996

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040044-TAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040046_32040047del , CM000668.2:g.32040046_32040047del	GRCh38
NC_000006.11:g.32007823_32007824del , CM000668.1:g.32007823_32007824del	GRCh37
NC_000006.10:g.32115802_32115803del	NCBI36
NG_007941.2:g.6739_6740del
NG_008337.2:g.74329_74330del
NG_007941.3:g.6742_6743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.780_781del MANE Select	ENSP00000496625.1:p.Met261AlafsTer?
ENST00000418967.6:c.780_781del	ENSP00000408860.2:p.Met261AlafsTer?
ENST00000435122.3:c.690_691del	ENSP00000415043.2:p.Met231AlafsTer?
ENST00000479074.5:n.838_839del
ENST00000479730.5:n.896_897del
ENST00000483041.5:n.949_950del
ENST00000486063.5:n.918+211_918+212del
NM_000500.7:c.780_781del	NP_000491.4:p.Met261AlafsTer?
NM_001128590.3:c.690_691del	NP_001122062.3:p.Met231AlafsTer?
XM_011514314.1:c.375_376del	XP_011512616.1:p.Met126AlafsTer?
NM_000500.9:c.780_781del MANE Select	NP_000491.4:p.Met261AlafsTer?
NM_001368143.1:c.375_376del	NP_001355072.1:p.Met126AlafsTer?
NM_001368144.1:c.375_376del	NP_001355073.1:p.Met126AlafsTer?
NM_001128590.4:c.690_691del	NP_001122062.3:p.Met231AlafsTer?
NM_001368143.2:c.375_376del	NP_001355072.1:p.Met126AlafsTer?
NM_001368144.2:c.375_376del	NP_001355073.1:p.Met126AlafsTer?