Canonical Allele Identifier: CA1087499341

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776283635
• gnomAD v3: 6-32040848-CACCT-C
• gnomAD v4: 6-32040848-CACCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040849_32040852del , CM000668.2:g.32040849_32040852del	GRCh38
NC_000006.11:g.32008626_32008629del , CM000668.1:g.32008626_32008629del	GRCh37
NC_000006.10:g.32116605_32116608del	NCBI36
NG_007941.2:g.7542_7545del
NG_008337.2:g.73523_73526del
NG_007941.3:g.7545_7548del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1223-20_1223-17del MANE Select	ENSP00000496625.1:n.1223-20_1223-17del
ENST00000418967.6:c.1223-20_1223-17del	ENSP00000408860.2:n.1223-20_1223-17del
ENST00000435122.3:c.1133-20_1133-17del	ENSP00000415043.2:n.1133-20_1133-17del
ENST00000479074.5:n.1364-20_1364-17del
ENST00000479730.5:n.1339-20_1339-17del
ENST00000483041.5:n.1392-20_1392-17del
ENST00000486063.5:n.1202-20_1202-17del
NM_000500.7:c.1223-20_1223-17del	NP_000491.4:n.1223-20_1223-17del
NM_001128590.3:c.1133-20_1133-17del	NP_001122062.3:n.1133-20_1133-17del
XM_011514314.1:c.818-20_818-17del	XP_011512616.1:n.818-20_818-17del
NM_000500.9:c.1223-20_1223-17del MANE Select	NP_000491.4:n.1223-20_1223-17del
NM_001368143.1:c.818-20_818-17del	NP_001355072.1:n.818-20_818-17del
NM_001368144.1:c.818-20_818-17del	NP_001355073.1:n.818-20_818-17del
NM_001128590.4:c.1133-20_1133-17del	NP_001122062.3:n.1133-20_1133-17del
NM_001368143.2:c.818-20_818-17del	NP_001355072.1:n.818-20_818-17del
NM_001368144.2:c.818-20_818-17del	NP_001355073.1:n.818-20_818-17del