Canonical Allele Identifier: CA2695206172

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039802_32039810delinsCCACAACGA , CM000668.2:g.32039802_32039810delinsCCACAACGA	GRCh38
NC_000006.11:g.32007579_32007587delinsCCACAACGA , CM000668.1:g.32007579_32007587delinsCCACAACGA	GRCh37
NC_000006.10:g.32115558_32115566delinsCCACAACGA	NCBI36
NG_007941.2:g.6495_6503delinsCCACAACGA
NG_008337.2:g.74565_74573delinsTCGTTGTGG
NG_007941.3:g.6498_6506delinsCCACAACGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.705_713delinsCCACAACGA MANE Select	ENSP00000496625.1:p.Ile237_Val238delinsAsnGlu
ENST00000418967.6:c.705_713delinsCCACAACGA	ENSP00000408860.2:p.Ile237_Val238delinsAsnGlu
ENST00000435122.3:c.615_623delinsCCACAACGA	ENSP00000415043.2:p.Ile207_Val208delinsAsnGlu
ENST00000462278.1:n.394_402delinsCCACAACGA
ENST00000466779.5:c.*397_*405delinsCCACAACGA	ENSP00000417321.1:n.*397_*405delinsCCACAACGA
ENST00000466879.5:n.756_764delinsCCACAACGA
ENST00000479074.5:n.763_771delinsCCACAACGA
ENST00000479730.5:n.821_829delinsCCACAACGA
ENST00000483041.5:n.874_882delinsCCACAACGA
ENST00000486063.5:n.885_893delinsCCACAACGA
NM_000500.7:c.705_713delinsCCACAACGA	NP_000491.4:p.Ile237_Val238delinsAsnGlu
NM_001128590.3:c.615_623delinsCCACAACGA	NP_001122062.3:p.Ile207_Val208delinsAsnGlu
XM_011514314.1:c.300_308delinsCCACAACGA	XP_011512616.1:p.Ile102_Val103delinsAsnGlu
NM_000500.9:c.705_713delinsCCACAACGA MANE Select	NP_000491.4:p.Ile237_Val238delinsAsnGlu
NM_001368143.1:c.300_308delinsCCACAACGA	NP_001355072.1:p.Ile102_Val103delinsAsnGlu
NM_001368144.1:c.300_308delinsCCACAACGA	NP_001355073.1:p.Ile102_Val103delinsAsnGlu
NM_001128590.4:c.615_623delinsCCACAACGA	NP_001122062.3:p.Ile207_Val208delinsAsnGlu
NM_001368143.2:c.300_308delinsCCACAACGA	NP_001355072.1:p.Ile102_Val103delinsAsnGlu
NM_001368144.2:c.300_308delinsCCACAACGA	NP_001355073.1:p.Ile102_Val103delinsAsnGlu