Canonical Allele Identifier: CA628978832

Gene: NPC1

Linked Data

• dbSNP Id: rs1475976591
• gnomAD v2: 18-21124922-A-ACCCCC
• gnomAD v3: 18-23544958-A-ACCCCC
• gnomAD v4: 18-23544958-A-ACCCCC
• MyVariant Identifiers: chr18:g.21124922_21124923insCCCCC (hg19) ; chr18:g.23544958_23544959insCCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544960_23544961insCCCCC , CM000680.2:g.23544960_23544961insCCCCC	GRCh38
NC_000018.9:g.21124924_21124925insCCCCC , CM000680.1:g.21124924_21124925insCCCCC	GRCh37
NC_000018.8:g.19378922_19378923insCCCCC	NCBI36
NG_012795.1:g.46659_46660insGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1947+1_1947+2insGGGGG
ENST00000269228.9:c.1947+1_1947+2insGGGGG
ENST00000540608.5:n.1861+1_1861+2insGGGGG
ENST00000591051.1:c.1025+1_1025+2insGGGGG
NM_000271.4:c.1947+1_1947+2insGGGGG
XM_005258277.1:c.1998+1_1998+2insGGGGG
XM_005258278.3:c.1998+1_1998+2insGGGGG
XM_005258279.1:c.1947+1_1947+2insGGGGG
XM_006722479.2:c.1998+1_1998+2insGGGGG
XM_011526015.1:c.1533+1_1533+2insGGGGG
XM_005258278.5:c.1998+1_1998+2insGGGGG
XM_005258279.2:c.1947+1_1947+2insGGGGG
XM_006722479.3:c.1998+1_1998+2insGGGGG
XM_017025784.1:c.1998+1_1998+2insGGGGG
XM_017025785.1:c.1998+1_1998+2insGGGGG
XM_017025786.1:c.1947+1_1947+2insGGGGG
XM_017025787.1:c.1947+1_1947+2insGGGGG
NM_000271.5:c.1947+1_1947+2insGGGGG