Canonical Allele Identifier: CA1619399253

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776229740

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040501del , CM000668.2:g.32040501del	GRCh38
NC_000006.11:g.32008278del , CM000668.1:g.32008278del	GRCh37
NC_000006.10:g.32116257del	NCBI36
NG_007941.2:g.7194del
NG_008337.2:g.73874del
NG_007941.3:g.7197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1035del MANE Select	ENSP00000496625.1:p.Leu345PhefsTer18
ENST00000418967.6:c.1035del	ENSP00000408860.2:p.Leu345PhefsTer18
ENST00000435122.3:c.945del	ENSP00000415043.2:p.Leu315PhefsTer18
ENST00000479074.5:n.1093del
ENST00000479730.5:n.1151del
ENST00000483041.5:n.1204del
ENST00000486063.5:n.1014del
NM_000500.7:c.1035del	NP_000491.4:p.Leu345PhefsTer18
NM_001128590.3:c.945del	NP_001122062.3:p.Leu315PhefsTer18
XM_011514314.1:c.630del	XP_011512616.1:p.Leu210PhefsTer18
NM_000500.9:c.1035del MANE Select	NP_000491.4:p.Leu345PhefsTer18
NM_001368143.1:c.630del	NP_001355072.1:p.Leu210PhefsTer18
NM_001368144.1:c.630del	NP_001355073.1:p.Leu210PhefsTer18
NM_001128590.4:c.945del	NP_001122062.3:p.Leu315PhefsTer18
NM_001368143.2:c.630del	NP_001355072.1:p.Leu210PhefsTer18
NM_001368144.2:c.630del	NP_001355073.1:p.Leu210PhefsTer18