Canonical Allele Identifier: CA2678089017

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039171-ACCCGCTCAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039175_32039183del , CM000668.2:g.32039175_32039183del	GRCh38
NC_000006.11:g.32006952_32006960del , CM000668.1:g.32006952_32006960del	GRCh37
NC_000006.10:g.32114931_32114939del	NCBI36
NG_007941.2:g.5868_5876del
NG_008337.2:g.75195_75203del
NG_007941.3:g.5871_5879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.374_382del MANE Select	ENSP00000496625.1:p.Arg125_Ala127del
ENST00000418967.6:c.374_382del	ENSP00000408860.2:p.Arg125_Ala127del
ENST00000435122.3:c.284_292del	ENSP00000415043.2:p.Arg95_Ala97del
ENST00000464325.5:n.295_303del
ENST00000466779.5:c.*66_*74del	ENSP00000417321.1:n.*66_*74del
ENST00000466879.5:n.425_433del
ENST00000469053.5:c.*66_*74del	ENSP00000418104.1:n.*66_*74del
ENST00000471671.4:c.374_382del	ENSP00000418561.1:p.Arg125_Ala127del
ENST00000478281.5:c.407_415del	ENSP00000419572.1:p.Arg136_Ala138del
ENST00000479074.5:n.432_440del
ENST00000479730.5:n.529_537del
ENST00000483041.5:n.543_551del
ENST00000486063.5:n.554_562del
ENST00000488465.1:n.382_390del
NM_000500.7:c.374_382del	NP_000491.4:p.Arg125_Ala127del
NM_001128590.3:c.284_292del	NP_001122062.3:p.Arg95_Ala97del
XM_011514314.1:c.-32_-24del	XP_011512616.1:n.-32_-24del
NM_000500.9:c.374_382del MANE Select	NP_000491.4:p.Arg125_Ala127del
NM_001368143.1:c.-32_-24del	NP_001355072.1:n.-32_-24del
NM_001368144.1:c.-32_-24del	NP_001355073.1:n.-32_-24del
NM_001128590.4:c.284_292del	NP_001122062.3:p.Arg95_Ala97del
NM_001368143.2:c.-32_-24del	NP_001355072.1:n.-32_-24del
NM_001368144.2:c.-32_-24del	NP_001355073.1:n.-32_-24del