Canonical Allele Identifier: CA8912722
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419323
ClinVar RCV Id: RCV003486851
dbSNP Id: rs750323164
ExAC: 18:21114427 C / CAAGT
gnomAD v2: 18-21114427-C-CAAGT
gnomAD v3: 18-23534463-C-CAAGT
gnomAD v4: 18-23534463-C-CAAGT
MyVariant Identifiers: chr18:g.21114428_21114431dupAAGT (hg19) chr18:g.21114427_21114428insAAGT (hg19) chr18:g.23534464_23534467dupAAGT (hg38) chr18:g.23534463_23534464insAAGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23534464_23534467dup , CM000680.2:g.23534464_23534467dup GRCh38
NC_000018.9:g.21114428_21114431dup , CM000680.1:g.21114428_21114431dup GRCh37
NC_000018.8:g.19368426_19368429dup NCBI36
NG_012795.1:g.57151_57154dup

Transcript Alleles

HGVS Amino-acid change
ENST00000269228.10:c.3570_3573dup MANE Select ENSP00000269228.4:p.Ala1192ThrfsTer?
ENST00000269228.9:c.3570_3573dup ENSP00000269228.4:p.Ala1192ThrfsTer?
ENST00000586150.5:c.325_328dup
ENST00000587163.1:n.94_97dup
ENST00000588867.1:n.325_328dup
ENST00000591051.1:c.2648_2651dup
ENST00000591107.6:c.247_250dup
NM_000271.4:c.3570_3573dup NP_000262.2:p.Ala1192ThrfsTer?
XM_005258277.1:c.3621_3624dup XP_005258334.1:p.Ala1209ThrfsTer?
XM_005258278.3:c.3621_3624dup XP_005258335.1:p.Ala1209ThrfsTer?
XM_005258279.1:c.3570_3573dup XP_005258336.1:p.Ala1192ThrfsTer?
XM_006722479.2:c.3621_3624dup XP_006722542.1:p.Ala1209ThrfsTer?
XM_011526015.1:c.3156_3159dup XP_011524317.1:p.Ala1054ThrfsTer?
XM_005258278.5:c.3621_3624dup XP_005258335.1:p.Ala1209ThrfsTer?
XM_005258279.2:c.3570_3573dup XP_005258336.1:p.Ala1192ThrfsTer?
XM_006722479.3:c.3621_3624dup XP_006722542.1:p.Ala1209ThrfsTer?
XM_017025784.1:c.3621_3624dup XP_016881273.1:p.Ala1209ThrfsTer?
XM_017025785.1:c.3621_3624dup XP_016881274.1:p.Ala1209ThrfsTer?
XM_017025786.1:c.3570_3573dup XP_016881275.1:p.Ala1192ThrfsTer?
XM_017025787.1:c.3570_3573dup XP_016881276.1:p.Ala1192ThrfsTer?
NM_000271.5:c.3570_3573dup MANE Select NP_000262.2:p.Ala1192ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'