Canonical Allele Identifier: CA1619396792

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039130_32039131delinsTG , CM000668.2:g.32039130_32039131delinsTG	GRCh38
NC_000006.11:g.32006907_32006908delinsTG , CM000668.1:g.32006907_32006908delinsTG	GRCh37
NC_000006.10:g.32114886_32114887delinsTG	NCBI36
NG_007941.2:g.5823_5824delinsTG
NG_007941.3:g.5826_5827delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.329_330delinsTG MANE Select	ENSP00000496625.1:p.Leu110=
ENST00000418967.6:c.329_330delinsTG	ENSP00000408860.2:p.Leu110=
ENST00000435122.3:c.239_240delinsTG	ENSP00000415043.2:p.Leu80=
ENST00000464325.5:n.250_251delinsTG
ENST00000466779.5:c.*21_*22delinsTG	ENSP00000417321.1:n.*21_*22delinsTG
ENST00000466879.5:n.380_381delinsTG
ENST00000469053.5:c.*21_*22delinsTG	ENSP00000418104.1:n.*21_*22delinsTG
ENST00000471671.4:c.329_330delinsTG	ENSP00000418561.1:p.Leu110=
ENST00000478281.5:c.362_363delinsTG	ENSP00000419572.1:p.Leu121=
ENST00000479074.5:n.387_388delinsTG
ENST00000479730.5:n.484_485delinsTG
ENST00000483041.5:n.498_499delinsTG
ENST00000486063.5:n.509_510delinsTG
ENST00000488465.1:n.337_338delinsTG
NM_000500.7:c.329_330delinsTG	NP_000491.4:p.Leu110=
NM_001128590.3:c.239_240delinsTG	NP_001122062.3:p.Leu80=
XM_011514314.1:c.-77_-76delinsTG	XP_011512616.1:n.-77_-76delinsTG
NM_000500.9:c.329_330delinsTG MANE Select	NP_000491.4:p.Leu110=
NM_001368143.1:c.-77_-76delinsTG	NP_001355072.1:n.-77_-76delinsTG
NM_001368144.1:c.-77_-76delinsTG	NP_001355073.1:n.-77_-76delinsTG
NM_001128590.4:c.239_240delinsTG	NP_001122062.3:p.Leu80=
NM_001368143.2:c.-77_-76delinsTG	NP_001355072.1:n.-77_-76delinsTG
NM_001368144.2:c.-77_-76delinsTG	NP_001355073.1:n.-77_-76delinsTG