Canonical Allele Identifier: CA2678088293

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039330-GCTGAACTCACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039334_32039344del , CM000668.2:g.32039334_32039344del	GRCh38
NC_000006.11:g.32007111_32007121del , CM000668.1:g.32007111_32007121del	GRCh37
NC_000006.10:g.32115090_32115100del	NCBI36
NG_007941.2:g.6027_6037del
NG_008337.2:g.75034_75044del
NG_007941.3:g.6030_6040del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.448-22_448-12del MANE Select	ENSP00000496625.1:n.448-22_448-12del
ENST00000418967.6:c.448-22_448-12del	ENSP00000408860.2:n.448-22_448-12del
ENST00000435122.3:c.358-22_358-12del	ENSP00000415043.2:n.358-22_358-12del
ENST00000462278.1:n.36-22_36-12del
ENST00000464325.5:n.369-22_369-12del
ENST00000466779.5:c.*140-22_*140-12del	ENSP00000417321.1:n.*140-22_*140-12del
ENST00000466879.5:n.499-22_499-12del
ENST00000469053.5:c.*140-22_*140-12del	ENSP00000418104.1:n.*140-22_*140-12del
ENST00000471671.4:c.448-22_448-12del	ENSP00000418561.1:n.448-22_448-12del
ENST00000478281.5:c.481-22_481-12del	ENSP00000419572.1:n.481-22_481-12del
ENST00000479074.5:n.506-22_506-12del
ENST00000479730.5:n.603-22_603-12del
ENST00000483041.5:n.617-22_617-12del
ENST00000486063.5:n.628-22_628-12del
ENST00000488465.1:n.456-22_456-12del
NM_000500.7:c.448-22_448-12del	NP_000491.4:n.448-22_448-12del
NM_001128590.3:c.358-22_358-12del	NP_001122062.3:n.358-22_358-12del
XM_011514314.1:c.43-22_43-12del	XP_011512616.1:n.43-22_43-12del
NM_000500.9:c.448-22_448-12del MANE Select	NP_000491.4:n.448-22_448-12del
NM_001368143.1:c.43-22_43-12del	NP_001355072.1:n.43-22_43-12del
NM_001368144.1:c.43-22_43-12del	NP_001355073.1:n.43-22_43-12del
NM_001128590.4:c.358-22_358-12del	NP_001122062.3:n.358-22_358-12del
NM_001368143.2:c.43-22_43-12del	NP_001355072.1:n.43-22_43-12del
NM_001368144.2:c.43-22_43-12del	NP_001355073.1:n.43-22_43-12del