Canonical Allele Identifier: CA1619396794

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039132_32039140delinsGGAGACTAC , CM000668.2:g.32039132_32039140delinsGGAGACTAC	GRCh38
NC_000006.11:g.32006909_32006917delinsGGAGACTAC , CM000668.1:g.32006909_32006917delinsGGAGACTAC	GRCh37
NC_000006.10:g.32114888_32114896delinsGGAGACTAC	NCBI36
NG_007941.2:g.5825_5833delinsGGAGACTAC
NG_007941.3:g.5828_5836delinsGGAGACTAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.331_339delinsGGAGACTAC MANE Select	ENSP00000496625.1:p.Gly111=
ENST00000418967.6:c.331_339delinsGGAGACTAC	ENSP00000408860.2:p.Gly111=
ENST00000435122.3:c.241_249delinsGGAGACTAC	ENSP00000415043.2:p.Gly81=
ENST00000464325.5:n.252_260delinsGGAGACTAC
ENST00000466779.5:c.*23_*31delinsGGAGACTAC	ENSP00000417321.1:n.*23_*31delinsGGAGACTA...
ENST00000466879.5:n.382_390delinsGGAGACTAC
ENST00000469053.5:c.*23_*31delinsGGAGACTAC	ENSP00000418104.1:n.*23_*31delinsGGAGACTA...
ENST00000471671.4:c.331_339delinsGGAGACTAC	ENSP00000418561.1:p.Gly111=
ENST00000478281.5:c.364_372delinsGGAGACTAC	ENSP00000419572.1:p.Gly122=
ENST00000479074.5:n.389_397delinsGGAGACTAC
ENST00000479730.5:n.486_494delinsGGAGACTAC
ENST00000483041.5:n.500_508delinsGGAGACTAC
ENST00000486063.5:n.511_519delinsGGAGACTAC
ENST00000488465.1:n.339_347delinsGGAGACTAC
NM_000500.7:c.331_339delinsGGAGACTAC	NP_000491.4:p.Gly111=
NM_001128590.3:c.241_249delinsGGAGACTAC	NP_001122062.3:p.Gly81=
XM_011514314.1:c.-75_-67delinsGGAGACTAC	XP_011512616.1:n.-75_-67delinsGGAGACTAC
NM_000500.9:c.331_339delinsGGAGACTAC MANE Select	NP_000491.4:p.Gly111=
NM_001368143.1:c.-75_-67delinsGGAGACTAC	NP_001355072.1:n.-75_-67delinsGGAGACTAC
NM_001368144.1:c.-75_-67delinsGGAGACTAC	NP_001355073.1:n.-75_-67delinsGGAGACTAC
NM_001128590.4:c.241_249delinsGGAGACTAC	NP_001122062.3:p.Gly81=
NM_001368143.2:c.-75_-67delinsGGAGACTAC	NP_001355072.1:n.-75_-67delinsGGAGACTAC
NM_001368144.2:c.-75_-67delinsGGAGACTAC	NP_001355073.1:n.-75_-67delinsGGAGACTAC