Canonical Allele Identifier: CA2678088518

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32038910-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038911_32038912del , CM000668.2:g.32038911_32038912del	GRCh38
NC_000006.11:g.32006688_32006689del , CM000668.1:g.32006688_32006689del	GRCh37
NC_000006.10:g.32114667_32114668del	NCBI36
NG_007941.2:g.5604_5605del
NG_007941.3:g.5607_5608del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.292+100_292+101del MANE Select	ENSP00000496625.1:n.292+100_292+101del
ENST00000418967.6:c.292+100_292+101del	ENSP00000408860.2:n.292+100_292+101del
ENST00000435122.3:c.203-183_203-182del	ENSP00000415043.2:n.203-183_203-182del
ENST00000464325.5:n.229+100_229+101del
ENST00000466779.5:c.292+100_292+101del	ENSP00000417321.1:n.292+100_292+101del
ENST00000466879.5:n.161_162del
ENST00000469053.5:c.203-164_203-163del	ENSP00000418104.1:n.203-164_203-163del
ENST00000471671.4:c.292+100_292+101del	ENSP00000418561.1:n.292+100_292+101del
ENST00000478281.5:c.292+100_292+101del	ENSP00000419572.1:n.292+100_292+101del
ENST00000479074.5:n.350+100_350+101del
ENST00000479730.5:n.447+100_447+101del
ENST00000480027.1:n.445_446del
ENST00000483041.5:n.442+100_442+101del
ENST00000486063.5:n.472+100_472+101del
ENST00000488465.1:n.300+100_300+101del
NM_000500.7:c.292+100_292+101del	NP_000491.4:n.292+100_292+101del
NM_001128590.3:c.203-183_203-182del	NP_001122062.3:n.203-183_203-182del
XM_011514314.1:c.-133+100_-133+101del	XP_011512616.1:n.-133+100_-133+101del
NM_000500.9:c.292+100_292+101del MANE Select	NP_000491.4:n.292+100_292+101del
NM_001368143.1:c.-133+100_-133+101del	NP_001355072.1:n.-133+100_-133+101del
NM_001368144.1:c.-132-164_-132-163del	NP_001355073.1:n.-132-164_-132-163del
NM_001128590.4:c.203-183_203-182del	NP_001122062.3:n.203-183_203-182del
NM_001368143.2:c.-133+100_-133+101del	NP_001355072.1:n.-133+100_-133+101del
NM_001368144.2:c.-132-164_-132-163del	NP_001355073.1:n.-132-164_-132-163del