Canonical Allele Identifier: CA1619399252

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040500_32040501delinsTG , CM000668.2:g.32040500_32040501delinsTG	GRCh38
NC_000006.11:g.32008277_32008278delinsTG , CM000668.1:g.32008277_32008278delinsTG	GRCh37
NC_000006.10:g.32116256_32116257delinsTG	NCBI36
NG_007941.2:g.7193_7194delinsTG
NG_008337.2:g.73874_73875delinsCA
NG_007941.3:g.7196_7197delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1034_1035delinsTG MANE Select	ENSP00000496625.1:p.Leu345=
ENST00000418967.6:c.1034_1035delinsTG	ENSP00000408860.2:p.Leu345=
ENST00000435122.3:c.944_945delinsTG	ENSP00000415043.2:p.Leu315=
ENST00000479074.5:n.1092_1093delinsTG
ENST00000479730.5:n.1150_1151delinsTG
ENST00000483041.5:n.1203_1204delinsTG
ENST00000486063.5:n.1013_1014delinsTG
NM_000500.7:c.1034_1035delinsTG	NP_000491.4:p.Leu345=
NM_001128590.3:c.944_945delinsTG	NP_001122062.3:p.Leu315=
XM_011514314.1:c.629_630delinsTG	XP_011512616.1:p.Leu210=
NM_000500.9:c.1034_1035delinsTG MANE Select	NP_000491.4:p.Leu345=
NM_001368143.1:c.629_630delinsTG	NP_001355072.1:p.Leu210=
NM_001368144.1:c.629_630delinsTG	NP_001355073.1:p.Leu210=
NM_001128590.4:c.944_945delinsTG	NP_001122062.3:p.Leu315=
NM_001368143.2:c.629_630delinsTG	NP_001355072.1:p.Leu210=
NM_001368144.2:c.629_630delinsTG	NP_001355073.1:p.Leu210=