Canonical Allele Identifier: CA2678090086

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040849-ACCTGTCCACCCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040852_32040863del , CM000668.2:g.32040852_32040863del	GRCh38
NC_000006.11:g.32008629_32008640del , CM000668.1:g.32008629_32008640del	GRCh37
NC_000006.10:g.32116608_32116619del	NCBI36
NG_007941.2:g.7545_7556del
NG_008337.2:g.73514_73525del
NG_007941.3:g.7548_7559del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1223-17_1223-6del MANE Select	ENSP00000496625.1:n.1223-17_1223-6del
ENST00000418967.6:c.1223-17_1223-6del	ENSP00000408860.2:n.1223-17_1223-6del
ENST00000435122.3:c.1133-17_1133-6del	ENSP00000415043.2:n.1133-17_1133-6del
ENST00000479074.5:n.1364-17_1364-6del
ENST00000479730.5:n.1339-17_1339-6del
ENST00000483041.5:n.1392-17_1392-6del
ENST00000486063.5:n.1202-17_1202-6del
NM_000500.7:c.1223-17_1223-6del	NP_000491.4:n.1223-17_1223-6del
NM_001128590.3:c.1133-17_1133-6del	NP_001122062.3:n.1133-17_1133-6del
XM_011514314.1:c.818-17_818-6del	XP_011512616.1:n.818-17_818-6del
NM_000500.9:c.1223-17_1223-6del MANE Select	NP_000491.4:n.1223-17_1223-6del
NM_001368143.1:c.818-17_818-6del	NP_001355072.1:n.818-17_818-6del
NM_001368144.1:c.818-17_818-6del	NP_001355073.1:n.818-17_818-6del
NM_001128590.4:c.1133-17_1133-6del	NP_001122062.3:n.1133-17_1133-6del
NM_001368143.2:c.818-17_818-6del	NP_001355072.1:n.818-17_818-6del
NM_001368144.2:c.818-17_818-6del	NP_001355073.1:n.818-17_818-6del