Canonical Allele Identifier: CA1619399508

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040935_32040936delinsTG , CM000668.2:g.32040935_32040936delinsTG	GRCh38
NC_000006.11:g.32008712_32008713delinsTG , CM000668.1:g.32008712_32008713delinsTG	GRCh37
NC_000006.10:g.32116691_32116692delinsTG	NCBI36
NG_007941.2:g.7628_7629delinsTG
NG_008337.2:g.73439_73440delinsCA
NG_007941.3:g.7631_7632delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1289_1290delinsTG MANE Select	ENSP00000496625.1:p.Leu430=
ENST00000418967.6:c.1289_1290delinsTG	ENSP00000408860.2:p.Leu430=
ENST00000435122.3:c.1199_1200delinsTG	ENSP00000415043.2:p.Leu400=
ENST00000479074.5:n.1430_1431delinsTG
ENST00000479730.5:n.1405_1406delinsTG
ENST00000483041.5:n.1458_1459delinsTG
ENST00000486063.5:n.1268_1269delinsTG
NM_000500.7:c.1289_1290delinsTG	NP_000491.4:p.Leu430=
NM_001128590.3:c.1199_1200delinsTG	NP_001122062.3:p.Leu400=
XM_011514314.1:c.884_885delinsTG	XP_011512616.1:p.Leu295=
NM_000500.9:c.1289_1290delinsTG MANE Select	NP_000491.4:p.Leu430=
NM_001368143.1:c.884_885delinsTG	NP_001355072.1:p.Leu295=
NM_001368144.1:c.884_885delinsTG	NP_001355073.1:p.Leu295=
NM_001128590.4:c.1199_1200delinsTG	NP_001122062.3:p.Leu400=
NM_001368143.2:c.884_885delinsTG	NP_001355072.1:p.Leu295=
NM_001368144.2:c.884_885delinsTG	NP_001355073.1:p.Leu295=