Canonical Allele Identifier: CA2641278427

Gene: NPC1

Linked Data

• gnomAD v4: 18-23544960-C-CCCCCCCCCCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544960_23544961insCCCCCCCCCCCCA , CM000680.2:g.23544960_23544961insCCCCCCCCCCCCA	GRCh38
NC_000018.9:g.21124924_21124925insCCCCCCCCCCCCA , CM000680.1:g.21124924_21124925insCCCCCCCCCCCCA	GRCh37
NC_000018.8:g.19378922_19378923insCCCCCCCCCCCCA	NCBI36
NG_012795.1:g.46657_46658insTGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1946_1947insTGGGGGGGGGGGG MANE Select	ENSP00000269228.4:p.Val650GlyfsTer?
ENST00000269228.9:c.1946_1947insTGGGGGGGGGGGG	ENSP00000269228.4:p.Val650GlyfsTer?
ENST00000540608.5:n.1860_1861insTGGGGGGGGGGGG
ENST00000591051.1:c.1024_1025insTGGGGGGGGGGGG
NM_000271.4:c.1946_1947insTGGGGGGGGGGGG	NP_000262.2:p.Val650GlyfsTer?
XM_005258277.1:c.1997_1998insTGGGGGGGGGGGG	XP_005258334.1:p.Val667GlyfsTer?
XM_005258278.3:c.1997_1998insTGGGGGGGGGGGG	XP_005258335.1:p.Val667GlyfsTer?
XM_005258279.1:c.1946_1947insTGGGGGGGGGGGG	XP_005258336.1:p.Val650GlyfsTer?
XM_006722479.2:c.1997_1998insTGGGGGGGGGGGG	XP_006722542.1:p.Val667GlyfsTer?
XM_011526015.1:c.1532_1533insTGGGGGGGGGGGG	XP_011524317.1:p.Val512GlyfsTer?
XM_005258278.5:c.1997_1998insTGGGGGGGGGGGG	XP_005258335.1:p.Val667GlyfsTer?
XM_005258279.2:c.1946_1947insTGGGGGGGGGGGG	XP_005258336.1:p.Val650GlyfsTer?
XM_006722479.3:c.1997_1998insTGGGGGGGGGGGG	XP_006722542.1:p.Val667GlyfsTer?
XM_017025784.1:c.1997_1998insTGGGGGGGGGGGG	XP_016881273.1:p.Val667GlyfsTer?
XM_017025785.1:c.1997_1998insTGGGGGGGGGGGG	XP_016881274.1:p.Val667GlyfsTer?
XM_017025786.1:c.1946_1947insTGGGGGGGGGGGG	XP_016881275.1:p.Val650GlyfsTer?
XM_017025787.1:c.1946_1947insTGGGGGGGGGGGG	XP_016881276.1:p.Val650GlyfsTer?
NM_000271.5:c.1946_1947insTGGGGGGGGGGGG MANE Select	NP_000262.2:p.Val650GlyfsTer?