Canonical Allele Identifier: CA2695206183

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040714_32040722del , CM000668.2:g.32040714_32040722del	GRCh38
NC_000006.11:g.32008491_32008499del , CM000668.1:g.32008491_32008499del	GRCh37
NC_000006.10:g.32116470_32116478del	NCBI36
NG_007941.2:g.7407_7415del
NG_008337.2:g.73654_73662del
NG_007941.3:g.7410_7418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1165_1173del MANE Select	ENSP00000496625.1:p.Leu389_Gly391del
ENST00000418967.6:c.1165_1173del	ENSP00000408860.2:p.Leu389_Gly391del
ENST00000435122.3:c.1075_1083del	ENSP00000415043.2:p.Leu359_Gly361del
ENST00000479074.5:n.1306_1314del
ENST00000479730.5:n.1281_1289del
ENST00000483041.5:n.1334_1342del
ENST00000486063.5:n.1144_1152del
NM_000500.7:c.1165_1173del	NP_000491.4:p.Leu389_Gly391del
NM_001128590.3:c.1075_1083del	NP_001122062.3:p.Leu359_Gly361del
XM_011514314.1:c.760_768del	XP_011512616.1:p.Leu254_Gly256del
NM_000500.9:c.1165_1173del MANE Select	NP_000491.4:p.Leu389_Gly391del
NM_001368143.1:c.760_768del	NP_001355072.1:p.Leu254_Gly256del
NM_001368144.1:c.760_768del	NP_001355073.1:p.Leu254_Gly256del
NM_001128590.4:c.1075_1083del	NP_001122062.3:p.Leu359_Gly361del
NM_001368143.2:c.760_768del	NP_001355072.1:p.Leu254_Gly256del
NM_001368144.2:c.760_768del	NP_001355073.1:p.Leu254_Gly256del