Canonical Allele Identifier: CA3732686

Gene: CYP21A2

Linked Data

• dbSNP Id: rs780893696
• ExAC: 6:32008566 G / GC
• MyVariant Identifiers: chr6:g.32008566_32008567insC (hg19) ; chr6:g.32040789_32040790insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040789_32040790insC , CM000668.2:g.32040789_32040790insC	GRCh38
NC_000006.11:g.32008566_32008567insC , CM000668.1:g.32008566_32008567insC	GRCh37
NC_000006.10:g.32116545_32116546insC	NCBI36
NG_007941.2:g.7482_7483insC
NG_008337.2:g.73585_73586insG
NG_007941.3:g.7485_7486insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1222+18_1222+19insC MANE Select	ENSP00000496625.1:n.1222+18_1222+19insC
ENST00000418967.6:c.1222+18_1222+19insC	ENSP00000408860.2:n.1222+18_1222+19insC
ENST00000435122.3:c.1132+18_1132+19insC	ENSP00000415043.2:n.1132+18_1132+19insC
ENST00000479074.5:n.1363+18_1363+19insC
ENST00000479730.5:n.1338+18_1338+19insC
ENST00000483041.5:n.1391+18_1391+19insC
ENST00000486063.5:n.1201+18_1201+19insC
NM_000500.7:c.1222+18_1222+19insC	NP_000491.4:n.1222+18_1222+19insC
NM_001128590.3:c.1132+18_1132+19insC	NP_001122062.3:n.1132+18_1132+19insC
XM_011514314.1:c.817+18_817+19insC	XP_011512616.1:n.817+18_817+19insC
NM_000500.9:c.1222+18_1222+19insC MANE Select	NP_000491.4:n.1222+18_1222+19insC
NM_001368143.1:c.817+18_817+19insC	NP_001355072.1:n.817+18_817+19insC
NM_001368144.1:c.817+18_817+19insC	NP_001355073.1:n.817+18_817+19insC
NM_001128590.4:c.1132+18_1132+19insC	NP_001122062.3:n.1132+18_1132+19insC
NM_001368143.2:c.817+18_817+19insC	NP_001355072.1:n.817+18_817+19insC
NM_001368144.2:c.817+18_817+19insC	NP_001355073.1:n.817+18_817+19insC