LDH info

Canonical Allele Identifier: CA16041912
Gene: NPC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370581
ClinVar RCV Id: RCV000411615
dbSNP Id: rs1057516603

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23539831del , CM000680.2:g.23539831del GRCh38
NC_000018.9:g.21119795del , CM000680.1:g.21119795del GRCh37
NC_000018.8:g.19373793del NCBI36
NG_012795.1:g.51787del

Transcript Alleles

HGVS Amino-acid change
NM_000271.4:c.2775del VV NP_000262.2:p.Asn925LysfsTer11
XM_005258277.1:c.2826del XP_005258334.1:p.Asn942LysfsTer11
XM_005258278.3:c.2826del XP_005258335.1:p.Asn942LysfsTer11
XM_005258279.1:c.2775del XP_005258336.1:p.Asn925LysfsTer11
XM_006722479.2:c.2826del XP_006722542.1:p.Asn942LysfsTer11
XM_011526015.1:c.2361del XP_011524317.1:p.Asn787LysfsTer11
XM_005258278.5:c.2826del XP_005258335.1:p.Asn942LysfsTer11
XM_005258279.2:c.2775del XP_005258336.1:p.Asn925LysfsTer11
XM_006722479.3:c.2826del XP_006722542.1:p.Asn942LysfsTer11
XM_017025784.1:c.2826del XP_016881273.1:p.Asn942LysfsTer11
XM_017025785.1:c.2826del XP_016881274.1:p.Asn942LysfsTer11
XM_017025786.1:c.2775del XP_016881275.1:p.Asn925LysfsTer11
XM_017025787.1:c.2775del XP_016881276.1:p.Asn925LysfsTer11
NM_000271.5:c.2775del VV MANE Preferred NP_000262.2:p.Asn925LysfsTer11
ENST00000269228.9:c.2775del ENSP00000269228.4:p.Asn925LysfsTer11
ENST00000540608.5:n.2689del
ENST00000586718.1:n.566del
ENST00000591051.1:n.1853del
ENST00000591075.1:n.68del