Canonical Allele Identifier: CA1619397298

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776176476

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040066_32040068del , CM000668.2:g.32040066_32040068del	GRCh38
NC_000006.11:g.32007843_32007845del , CM000668.1:g.32007843_32007845del	GRCh37
NC_000006.10:g.32115822_32115824del	NCBI36
NG_007941.2:g.6759_6761del
NG_008337.2:g.74309_74311del
NG_007941.3:g.6762_6764del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.800_802del MANE Select	ENSP00000496625.1:p.Gln267del
ENST00000418967.6:c.800_802del	ENSP00000408860.2:p.Gln267del
ENST00000435122.3:c.710_712del	ENSP00000415043.2:p.Gln237del
ENST00000479074.5:n.858_860del
ENST00000479730.5:n.916_918del
ENST00000483041.5:n.969_971del
ENST00000486063.5:n.918+231_918+233del
NM_000500.7:c.800_802del	NP_000491.4:p.Gln267del
NM_001128590.3:c.710_712del	NP_001122062.3:p.Gln237del
XM_011514314.1:c.395_397del	XP_011512616.1:p.Gln132del
NM_000500.9:c.800_802del MANE Select	NP_000491.4:p.Gln267del
NM_001368143.1:c.395_397del	NP_001355072.1:p.Gln132del
NM_001368144.1:c.395_397del	NP_001355073.1:p.Gln132del
NM_001128590.4:c.710_712del	NP_001122062.3:p.Gln237del
NM_001368143.2:c.395_397del	NP_001355072.1:p.Gln132del
NM_001368144.2:c.395_397del	NP_001355073.1:p.Gln132del