Canonical Allele Identifier: CA658658728

Gene: NPC1

Linked Data

• ClinVar Variation Id: 471941
• ClinVar RCV Id: RCV000535851
• dbSNP Id: rs1555636605
• MyVariant Identifiers: chr18:g.21134764_21134766del (hg19) ; chr18:g.23554800_23554802del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23554803_23554805del , CM000680.2:g.23554803_23554805del	GRCh38
NC_000018.9:g.21134767_21134769del , CM000680.1:g.21134767_21134769del	GRCh37
NC_000018.8:g.19388765_19388767del	NCBI36
NG_012795.1:g.36816_36818del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1509_1511del MANE Select	ENSP00000269228.4:p.Phe504del
ENST00000269228.9:c.1509_1511del	ENSP00000269228.4:p.Phe504del
ENST00000540608.5:n.1423_1425del
ENST00000590301.1:n.184_186del
ENST00000591051.1:c.791_793del
NM_000271.4:c.1509_1511del	NP_000262.2:p.Phe504del
XM_005258277.1:c.1560_1562del	XP_005258334.1:p.Phe521del
XM_005258278.3:c.1560_1562del	XP_005258335.1:p.Phe521del
XM_005258279.1:c.1509_1511del	XP_005258336.1:p.Phe504del
XM_006722479.2:c.1560_1562del	XP_006722542.1:p.Phe521del
XM_011526015.1:c.1095_1097del	XP_011524317.1:p.Phe366del
XM_005258278.5:c.1560_1562del	XP_005258335.1:p.Phe521del
XM_005258279.2:c.1509_1511del	XP_005258336.1:p.Phe504del
XM_006722479.3:c.1560_1562del	XP_006722542.1:p.Phe521del
XM_017025784.1:c.1560_1562del	XP_016881273.1:p.Phe521del
XM_017025785.1:c.1560_1562del	XP_016881274.1:p.Phe521del
XM_017025786.1:c.1509_1511del	XP_016881275.1:p.Phe504del
XM_017025787.1:c.1509_1511del	XP_016881276.1:p.Phe504del
NM_000271.5:c.1509_1511del MANE Select	NP_000262.2:p.Phe504del