Canonical Allele Identifier: CA658823786

Gene: NPC1

Linked Data

• ClinVar Variation Id: 556403
• ClinVar RCV Id: RCV001731877
• dbSNP Id: rs1555635957
• gnomAD v3: 18-23551652-CG-C
• gnomAD v4: 18-23551652-CG-C
• MyVariant Identifiers: chr18:g.23551653del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23551655del , CM000680.2:g.23551655del	GRCh38
NC_000018.9:g.21131619del , CM000680.1:g.21131619del	GRCh37
NC_000018.8:g.19385617del	NCBI36
NG_012795.1:g.39965del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1628del MANE Select	ENSP00000269228.4:p.Pro543ArgfsTer20
ENST00000269228.9:c.1628del	ENSP00000269228.4:p.Pro543ArgfsTer20
ENST00000540608.5:n.1542del
ENST00000590301.1:n.303del
ENST00000591051.1:c.835+3105del
NM_000271.4:c.1628del	NP_000262.2:p.Pro543ArgfsTer20
XM_005258277.1:c.1679del	XP_005258334.1:p.Pro560ArgfsTer20
XM_005258278.3:c.1679del	XP_005258335.1:p.Pro560ArgfsTer20
XM_005258279.1:c.1628del	XP_005258336.1:p.Pro543ArgfsTer20
XM_006722479.2:c.1679del	XP_006722542.1:p.Pro560ArgfsTer20
XM_011526015.1:c.1214del	XP_011524317.1:p.Pro405ArgfsTer20
XM_005258278.5:c.1679del	XP_005258335.1:p.Pro560ArgfsTer20
XM_005258279.2:c.1628del	XP_005258336.1:p.Pro543ArgfsTer20
XM_006722479.3:c.1679del	XP_006722542.1:p.Pro560ArgfsTer20
XM_017025784.1:c.1679del	XP_016881273.1:p.Pro560ArgfsTer20
XM_017025785.1:c.1679del	XP_016881274.1:p.Pro560ArgfsTer20
XM_017025786.1:c.1628del	XP_016881275.1:p.Pro543ArgfsTer20
XM_017025787.1:c.1628del	XP_016881276.1:p.Pro543ArgfsTer20
NM_000271.5:c.1628del MANE Select	NP_000262.2:p.Pro543ArgfsTer20