LDH info

Canonical Allele Identifier: CA274415
Gene: CYP21A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 189145
dbSNP Id: rs786204728

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039807_32039816delinsACGAGGAGAA , CM000668.2:g.32039807_32039816delinsACGAGGAGAA GRCh38
NC_000006.11:g.32007584_32007593delinsACGAGGAGAA , CM000668.1:g.32007584_32007593delinsACGAGGAGAA GRCh37
NC_000006.10:g.32115563_32115572delinsACGAGGAGAA NCBI36
NG_007941.2:g.6500_6509delinsACGAGGAGAA
NG_008337.2:g.74559_74568delinsTTCTCCTCGT
NG_007941.3:g.6503_6512delinsACGAGGAGAA

Transcript Alleles

HGVS Amino-acid change
NM_000500.7:c.710_719delinsACGAGGAGAA VV NP_000491.4:p.Ile237_Met240delinsAsnGluGl...
NM_001128590.3:c.620_629delinsACGAGGAGAA VV NP_001122062.3:p.Ile207_Met210delinsAsnGl...
XM_011514314.1:c.305_314delinsACGAGGAGAA XP_011512616.1:p.Ile102_Met105delinsAsnGl...
NM_000500.9:c.710_719delinsACGAGGAGAA VV NP_000491.4:p.Ile237_Met240delinsAsnGluGl...
ENST00000418967.6:c.710_719delinsACGAGGAGAA ENSP00000408860.2:p.Ile237_Met240delinsAs...
ENST00000435122.3:c.620_629delinsACGAGGAGAA ENSP00000415043.2:p.Ile207_Met210delinsAs...
ENST00000462278.1:n.399_408delinsACGAGGAGAA
ENST00000466779.5:c.*402_*411delinsACGAGGAGAA ENSP00000417321.1:p.=
ENST00000466879.5:n.761_770delinsACGAGGAGAA
ENST00000479074.5:n.768_777delinsACGAGGAGAA
ENST00000479730.5:n.826_835delinsACGAGGAGAA
ENST00000483041.5:n.879_888delinsACGAGGAGAA
ENST00000486063.5:n.890_899delinsACGAGGAGAA