LDH info

Canonical Allele Identifier: CA341188
Gene: CYP21A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12164
dbSNP Id: rs387906510

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039133_32039140del , CM000668.2:g.32039133_32039140del GRCh38
NC_000006.11:g.32006910_32006917del , CM000668.1:g.32006910_32006917del GRCh37
NC_000006.10:g.32114889_32114896del NCBI36
NG_007941.2:g.5826_5833del
NG_007941.3:g.5829_5836del

Transcript Alleles

HGVS Amino-acid change
NM_000500.7:c.332_339del VV NP_000491.4:p.Gly111ValfsTer21
NM_001128590.3:c.242_249del VV NP_001122062.3:p.Gly81ValfsTer21
XM_011514314.1:c.-74_-67del XP_011512616.1:p.=
NM_000500.9:c.332_339del VV NP_000491.4:p.Gly111ValfsTer21
ENST00000418967.6:c.332_339del ENSP00000408860.2:p.Gly111ValfsTer21
ENST00000435122.3:c.242_249del ENSP00000415043.2:p.Gly81ValfsTer21
ENST00000464325.5:n.253_260del
ENST00000466779.5:c.*24_*31del ENSP00000417321.1:p.=
ENST00000466879.5:n.383_390del
ENST00000469053.5:c.*24_*31del ENSP00000418104.1:p.=
ENST00000471671.4:c.332_339del ENSP00000418561.1:p.Gly111ValfsTer21
ENST00000478281.5:c.365_372del ENSP00000419572.1:p.Gly122ValfsTer21
ENST00000479074.5:n.390_397del
ENST00000479730.5:n.487_494del
ENST00000483041.5:n.501_508del
ENST00000486063.5:n.512_519del
ENST00000488465.1:n.340_347del