Canonical Allele Identifier: CA823931353

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1318386044
• MyVariant Identifiers: chr6:g.32008207_32008224del (hg19) ; chr6:g.32040430_32040447del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040431_32040448del , CM000668.2:g.32040431_32040448del	GRCh38
NC_000006.11:g.32008208_32008225del , CM000668.1:g.32008208_32008225del	GRCh37
NC_000006.10:g.32116187_32116204del	NCBI36
NG_007941.2:g.7124_7141del
NG_008337.2:g.73928_73945del
NG_007941.3:g.7127_7144del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.965_982del MANE Select	ENSP00000496625.1:p.Leu322_Gly327del
ENST00000418967.6:c.965_982del	ENSP00000408860.2:p.Leu322_Gly327del
ENST00000435122.3:c.875_892del	ENSP00000415043.2:p.Leu292_Gly297del
ENST00000479074.5:n.1023_1040del
ENST00000479730.5:n.1081_1098del
ENST00000483041.5:n.1134_1151del
ENST00000486063.5:n.944_961del
NM_000500.7:c.965_982del	NP_000491.4:p.Leu322_Gly327del
NM_001128590.3:c.875_892del	NP_001122062.3:p.Leu292_Gly297del
XM_011514314.1:c.560_577del	XP_011512616.1:p.Leu187_Gly192del
NM_000500.9:c.965_982del MANE Select	NP_000491.4:p.Leu322_Gly327del
NM_001368143.1:c.560_577del	NP_001355072.1:p.Leu187_Gly192del
NM_001368144.1:c.560_577del	NP_001355073.1:p.Leu187_Gly192del
NM_001128590.4:c.875_892del	NP_001122062.3:p.Leu292_Gly297del
NM_001368143.2:c.560_577del	NP_001355072.1:p.Leu187_Gly192del
NM_001368144.2:c.560_577del	NP_001355073.1:p.Leu187_Gly192del