Canonical Allele Identifier: CA16620667
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419641
ClinVar RCV Id: RCV000480939 RCV000984201
dbSNP Id: rs1064794009
gnomAD v4: 18-23533373-CAG-C
MyVariant Identifiers: chr18:g.21113338_21113339del (hg19) chr18:g.23533374_23533375del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23533374_23533375del , CM000680.2:g.23533374_23533375del GRCh38
NC_000018.9:g.21113338_21113339del , CM000680.1:g.21113338_21113339del GRCh37
NC_000018.8:g.19367336_19367337del NCBI36
NG_012795.1:g.58243_58244del
NG_033119.1:g.34905_34906del

Transcript Alleles

HGVS Amino-acid change
ENST00000269228.10:c.3734_3735del MANE Select ENSP00000269228.4:p.Pro1245ArgfsTer12
ENST00000269228.9:c.3734_3735del ENSP00000269228.4:p.Pro1245ArgfsTer12
ENST00000586150.5:c.489_490del
ENST00000587163.1:n.258_259del
ENST00000588867.1:n.1417_1418del
ENST00000590723.5:c.143_144del ENSP00000464755.1:p.Pro48ArgfsTer?
ENST00000591051.1:c.2812_2813del
ENST00000591107.6:c.411_412del
ENST00000593280.2:c.66_67del
NM_000271.4:c.3734_3735del NP_000262.2:p.Pro1245ArgfsTer12
XM_005258277.1:c.3785_3786del XP_005258334.1:p.Pro1262ArgfsTer?
XM_005258278.3:c.3785_3786del XP_005258335.1:p.Pro1262ArgfsTer12
XM_005258279.1:c.3734_3735del XP_005258336.1:p.Pro1245ArgfsTer?
XM_006722479.2:c.3785_3786del XP_006722542.1:p.Pro1262ArgfsTer?
XM_011526015.1:c.3320_3321del XP_011524317.1:p.Pro1107ArgfsTer?
XM_005258278.5:c.3785_3786del XP_005258335.1:p.Pro1262ArgfsTer12
XM_005258279.2:c.3734_3735del XP_005258336.1:p.Pro1245ArgfsTer?
XM_006722479.3:c.3785_3786del XP_006722542.1:p.Pro1262ArgfsTer?
XM_017025784.1:c.3785_3786del XP_016881273.1:p.Pro1262ArgfsTer8
XM_017025785.1:c.3785_3786del XP_016881274.1:p.Pro1262ArgfsTer?
XM_017025786.1:c.3734_3735del XP_016881275.1:p.Pro1245ArgfsTer8
XM_017025787.1:c.3734_3735del XP_016881276.1:p.Pro1245ArgfsTer?
NM_000271.5:c.3734_3735del MANE Select NP_000262.2:p.Pro1245ArgfsTer12
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