Canonical Allele Identifier: CA2678088273

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32038428-GCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038431_32038433del , CM000668.2:g.32038431_32038433del	GRCh38
NC_000006.11:g.32006208_32006210del , CM000668.1:g.32006208_32006210del	GRCh37
NC_000006.10:g.32114187_32114189del	NCBI36
NG_007941.2:g.5127_5129del
NG_007941.3:g.5127_5129del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.9_11del MANE Select	ENSP00000496625.1:p.Leu4del
ENST00000418967.6:c.9_11del	ENSP00000408860.2:p.Leu4del
ENST00000435122.3:c.9_11del	ENSP00000415043.2:p.Leu4del
ENST00000466779.5:c.9_11del	ENSP00000417321.1:p.Leu4del
ENST00000469053.5:c.9_11del	ENSP00000418104.1:p.Leu4del
ENST00000471671.4:c.9_11del	ENSP00000418561.1:p.Leu4del
ENST00000478281.5:c.9_11del	ENSP00000419572.1:p.Leu4del
ENST00000479074.5:n.67_69del
ENST00000479730.5:n.67_69del
ENST00000480027.1:n.62_64del
ENST00000483041.5:n.62_64del
ENST00000486063.5:n.92_94del
ENST00000488465.1:n.17_19del
NM_000500.7:c.9_11del	NP_000491.4:p.Leu4del
NM_001128590.3:c.9_11del	NP_001122062.3:p.Leu4del
XM_011514314.1:c.-416_-414del	XP_011512616.1:n.-416_-414del
NM_000500.9:c.9_11del MANE Select	NP_000491.4:p.Leu4del
NM_001368143.1:c.-416_-414del	NP_001355072.1:n.-416_-414del
NM_001368144.1:c.-326_-324del	NP_001355073.1:n.-326_-324del
NM_001128590.4:c.9_11del	NP_001122062.3:p.Leu4del
NM_001368143.2:c.-416_-414del	NP_001355072.1:n.-416_-414del
NM_001368144.2:c.-326_-324del	NP_001355073.1:n.-326_-324del