Canonical Allele Identifier: CA1087499092

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776219355
• gnomAD v3: 6-32040429-GC-G
• gnomAD v4: 6-32040429-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040430del , CM000668.2:g.32040430del	GRCh38
NC_000006.11:g.32008207del , CM000668.1:g.32008207del	GRCh37
NC_000006.10:g.32116186del	NCBI36
NG_007941.2:g.7123del
NG_008337.2:g.73945del
NG_007941.3:g.7126del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.964del MANE Select	ENSP00000496625.1:p.Leu322Ter
ENST00000418967.6:c.964del	ENSP00000408860.2:p.Leu322Ter
ENST00000435122.3:c.874del	ENSP00000415043.2:p.Leu292Ter
ENST00000479074.5:n.1022del
ENST00000479730.5:n.1080del
ENST00000483041.5:n.1133del
ENST00000486063.5:n.943del
NM_000500.7:c.964del	NP_000491.4:p.Leu322Ter
NM_001128590.3:c.874del	NP_001122062.3:p.Leu292Ter
XM_011514314.1:c.559del	XP_011512616.1:p.Leu187Ter
NM_000500.9:c.964del MANE Select	NP_000491.4:p.Leu322Ter
NM_001368143.1:c.559del	NP_001355072.1:p.Leu187Ter
NM_001368144.1:c.559del	NP_001355073.1:p.Leu187Ter
NM_001128590.4:c.874del	NP_001122062.3:p.Leu292Ter
NM_001368143.2:c.559del	NP_001355072.1:p.Leu187Ter
NM_001368144.2:c.559del	NP_001355073.1:p.Leu187Ter