Canonical Allele Identifier: CA2578574199

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040595_32040598del , CM000668.2:g.32040595_32040598del	GRCh38
NC_000006.11:g.32008372_32008375del , CM000668.1:g.32008372_32008375del	GRCh37
NC_000006.10:g.32116351_32116354del	NCBI36
NG_007941.2:g.7288_7291del
NG_008337.2:g.73778_73781del
NG_007941.3:g.7291_7294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1118+11_1118+14del MANE Select	ENSP00000496625.1:n.1118+11_1118+14del
ENST00000418967.6:c.1118+11_1118+14del	ENSP00000408860.2:n.1118+11_1118+14del
ENST00000435122.3:c.1028+11_1028+14del	ENSP00000415043.2:n.1028+11_1028+14del
ENST00000479074.5:n.1187_1190del
ENST00000479730.5:n.1234+11_1234+14del
ENST00000483041.5:n.1287+11_1287+14del
ENST00000486063.5:n.1097+11_1097+14del
NM_000500.7:c.1118+11_1118+14del	NP_000491.4:n.1118+11_1118+14del
NM_001128590.3:c.1028+11_1028+14del	NP_001122062.3:n.1028+11_1028+14del
XM_011514314.1:c.713+11_713+14del	XP_011512616.1:n.713+11_713+14del
NM_000500.9:c.1118+11_1118+14del MANE Select	NP_000491.4:n.1118+11_1118+14del
NM_001368143.1:c.713+11_713+14del	NP_001355072.1:n.713+11_713+14del
NM_001368144.1:c.713+11_713+14del	NP_001355073.1:n.713+11_713+14del
NM_001128590.4:c.1028+11_1028+14del	NP_001122062.3:n.1028+11_1028+14del
NM_001368143.2:c.713+11_713+14del	NP_001355072.1:n.713+11_713+14del
NM_001368144.2:c.713+11_713+14del	NP_001355073.1:n.713+11_713+14del