Canonical Allele Identifier: CA2678088515

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32038908-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038911del , CM000668.2:g.32038911del	GRCh38
NC_000006.11:g.32006688del , CM000668.1:g.32006688del	GRCh37
NC_000006.10:g.32114667del	NCBI36
NG_007941.2:g.5604del
NG_007941.3:g.5607del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.292+100del MANE Select	ENSP00000496625.1:n.292+100del
ENST00000418967.6:c.292+100del	ENSP00000408860.2:n.292+100del
ENST00000435122.3:c.203-183del	ENSP00000415043.2:n.203-183del
ENST00000464325.5:n.229+100del
ENST00000466779.5:c.292+100del	ENSP00000417321.1:n.292+100del
ENST00000466879.5:n.161del
ENST00000469053.5:c.203-164del	ENSP00000418104.1:n.203-164del
ENST00000471671.4:c.292+100del	ENSP00000418561.1:n.292+100del
ENST00000478281.5:c.292+100del	ENSP00000419572.1:n.292+100del
ENST00000479074.5:n.350+100del
ENST00000479730.5:n.447+100del
ENST00000480027.1:n.445del
ENST00000483041.5:n.442+100del
ENST00000486063.5:n.472+100del
ENST00000488465.1:n.300+100del
NM_000500.7:c.292+100del	NP_000491.4:n.292+100del
NM_001128590.3:c.203-183del	NP_001122062.3:n.203-183del
XM_011514314.1:c.-133+100del	XP_011512616.1:n.-133+100del
NM_000500.9:c.292+100del MANE Select	NP_000491.4:n.292+100del
NM_001368143.1:c.-133+100del	NP_001355072.1:n.-133+100del
NM_001368144.1:c.-132-164del	NP_001355073.1:n.-132-164del
NM_001128590.4:c.203-183del	NP_001122062.3:n.203-183del
NM_001368143.2:c.-133+100del	NP_001355072.1:n.-133+100del
NM_001368144.2:c.-132-164del	NP_001355073.1:n.-132-164del