Canonical Allele Identifier: CA16041918
Gene: NPC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371030
ClinVar RCV Id: RCV000408988
dbSNP Id: rs1057516950

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23556536_23556537del , CM000680.2:g.23556536_23556537del GRCh38
NC_000018.9:g.21136500_21136501del , CM000680.1:g.21136500_21136501del GRCh37
NC_000018.8:g.19390498_19390499del NCBI36
NG_012795.1:g.35082_35083del

Transcript Alleles

HGVS Amino-acid change
NM_000271.4:c.1033_1034del VV NP_000262.2:p.Phe345LeufsTer?
XM_005258277.1:c.1084_1085del XP_005258334.1:p.Phe362LeufsTer?
XM_005258278.3:c.1084_1085del XP_005258335.1:p.Phe362LeufsTer?
XM_005258279.1:c.1033_1034del XP_005258336.1:p.Phe345LeufsTer?
XM_006722479.2:c.1084_1085del XP_006722542.1:p.Phe362LeufsTer?
XM_011526015.1:c.619_620del XP_011524317.1:p.Phe207LeufsTer?
XM_005258278.5:c.1084_1085del XP_005258335.1:p.Phe362LeufsTer?
XM_005258279.2:c.1033_1034del XP_005258336.1:p.Phe345LeufsTer?
XM_006722479.3:c.1084_1085del XP_006722542.1:p.Phe362LeufsTer?
XM_017025784.1:c.1084_1085del XP_016881273.1:p.Phe362LeufsTer?
XM_017025785.1:c.1084_1085del XP_016881274.1:p.Phe362LeufsTer?
XM_017025786.1:c.1033_1034del XP_016881275.1:p.Phe345LeufsTer?
XM_017025787.1:c.1033_1034del XP_016881276.1:p.Phe345LeufsTer?
NM_000271.5:c.1033_1034del VV MANE Preferred NP_000262.2:p.Phe345LeufsTer?
ENST00000269228.9:c.1033_1034del ENSP00000269228.4:p.Phe345LeufsTer?
ENST00000540608.5:n.947_948del
ENST00000591051.1:n.315_316del