Canonical Allele Identifier: CA2678089781

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040694-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040697_32040698del , CM000668.2:g.32040697_32040698del	GRCh38
NC_000006.11:g.32008474_32008475del , CM000668.1:g.32008474_32008475del	GRCh37
NC_000006.10:g.32116453_32116454del	NCBI36
NG_007941.2:g.7390_7391del
NG_008337.2:g.73679_73680del
NG_007941.3:g.7393_7394del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1148_1149del MANE Select	ENSP00000496625.1:p.Thr383SerfsTer13
ENST00000418967.6:c.1148_1149del	ENSP00000408860.2:p.Thr383SerfsTer13
ENST00000435122.3:c.1058_1059del	ENSP00000415043.2:p.Thr353SerfsTer13
ENST00000479074.5:n.1289_1290del
ENST00000479730.5:n.1264_1265del
ENST00000483041.5:n.1317_1318del
ENST00000486063.5:n.1127_1128del
NM_000500.7:c.1148_1149del	NP_000491.4:p.Thr383SerfsTer13
NM_001128590.3:c.1058_1059del	NP_001122062.3:p.Thr353SerfsTer13
XM_011514314.1:c.743_744del	XP_011512616.1:p.Thr248SerfsTer13
NM_000500.9:c.1148_1149del MANE Select	NP_000491.4:p.Thr383SerfsTer13
NM_001368143.1:c.743_744del	NP_001355072.1:p.Thr248SerfsTer13
NM_001368144.1:c.743_744del	NP_001355073.1:p.Thr248SerfsTer13
NM_001128590.4:c.1058_1059del	NP_001122062.3:p.Thr353SerfsTer13
NM_001368143.2:c.743_744del	NP_001355072.1:p.Thr248SerfsTer13
NM_001368144.2:c.743_744del	NP_001355073.1:p.Thr248SerfsTer13