Canonical Allele Identifier: CA1619397104

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039682_32039683delinsAG , CM000668.2:g.32039682_32039683delinsAG	GRCh38
NC_000006.11:g.32007459_32007460delinsAG , CM000668.1:g.32007459_32007460delinsAG	GRCh37
NC_000006.10:g.32115438_32115439delinsAG	NCBI36
NG_007941.2:g.6375_6376delinsAG
NG_008337.2:g.74692_74693delinsCT
NG_007941.3:g.6378_6379delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.651+35_651+36delinsAG MANE Select	ENSP00000496625.1:n.651+35_651+36delinsAG
ENST00000418967.6:c.651+35_651+36delinsAG	ENSP00000408860.2:n.651+35_651+36delinsAG
ENST00000435122.3:c.561+35_561+36delinsAG	ENSP00000415043.2:n.561+35_561+36delinsAG
ENST00000462278.1:n.274_275delinsAG
ENST00000464325.5:n.572+35_572+36delinsAG
ENST00000466779.5:c.*343+35_*343+36delinsAG	ENSP00000417321.1:n.*343+35_*343+36delinsAG
ENST00000466879.5:n.702+35_702+36delinsAG
ENST00000479074.5:n.709+35_709+36delinsAG
ENST00000479730.5:n.767+35_767+36delinsAG
ENST00000483041.5:n.820+35_820+36delinsAG
ENST00000486063.5:n.831+35_831+36delinsAG
NM_000500.7:c.651+35_651+36delinsAG	NP_000491.4:n.651+35_651+36delinsAG
NM_001128590.3:c.561+35_561+36delinsAG	NP_001122062.3:n.561+35_561+36delinsAG
XM_011514314.1:c.246+35_246+36delinsAG	XP_011512616.1:n.246+35_246+36delinsAG
NM_000500.9:c.651+35_651+36delinsAG MANE Select	NP_000491.4:n.651+35_651+36delinsAG
NM_001368143.1:c.246+35_246+36delinsAG	NP_001355072.1:n.246+35_246+36delinsAG
NM_001368144.1:c.246+35_246+36delinsAG	NP_001355073.1:n.246+35_246+36delinsAG
NM_001128590.4:c.561+35_561+36delinsAG	NP_001122062.3:n.561+35_561+36delinsAG
NM_001368143.2:c.246+35_246+36delinsAG	NP_001355072.1:n.246+35_246+36delinsAG
NM_001368144.2:c.246+35_246+36delinsAG	NP_001355073.1:n.246+35_246+36delinsAG