LDH info

Canonical Allele Identifier: CA16041925
Gene: NPC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370404
ClinVar RCV Id: RCV000410028
dbSNP Id: rs1057516462

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23568892del , CM000680.2:g.23568892del GRCh38
NC_000018.9:g.21148856del , CM000680.1:g.21148856del GRCh37
NC_000018.8:g.19402854del NCBI36
NG_012795.1:g.22727del

Transcript Alleles

HGVS Amino-acid change
NM_000271.4:c.395del VV NP_000262.2:p.Pro132LeufsTer10
XM_005258277.1:c.395del XP_005258334.1:p.Pro132LeufsTer10
XM_005258278.3:c.395del XP_005258335.1:p.Pro132LeufsTer10
XM_005258279.1:c.395del XP_005258336.1:p.Pro132LeufsTer10
XM_006722479.2:c.395del XP_006722542.1:p.Pro132LeufsTer10
XM_011526015.1:c.-71del XP_011524317.1:p.=
XM_005258278.5:c.395del XP_005258335.1:p.Pro132LeufsTer10
XM_005258279.2:c.395del XP_005258336.1:p.Pro132LeufsTer10
XM_006722479.3:c.395del XP_006722542.1:p.Pro132LeufsTer10
XM_017025784.1:c.395del XP_016881273.1:p.Pro132LeufsTer10
XM_017025785.1:c.395del XP_016881274.1:p.Pro132LeufsTer10
XM_017025786.1:c.395del XP_016881275.1:p.Pro132LeufsTer10
XM_017025787.1:c.395del XP_016881276.1:p.Pro132LeufsTer10
NM_000271.5:c.395del VV MANE Preferred NP_000262.2:p.Pro132LeufsTer10
ENST00000269228.9:c.395del ENSP00000269228.4:p.Pro132LeufsTer10
ENST00000540608.5:n.309del