Canonical Allele Identifier: CA2290179930

Gene: NPC1

Linked Data

• dbSNP Id: rs2059163045

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568861_23568862del , CM000680.2:g.23568861_23568862del	GRCh38
NC_000018.9:g.21148825_21148826del , CM000680.1:g.21148825_21148826del	GRCh37
NC_000018.8:g.19402823_19402824del	NCBI36
NG_012795.1:g.22757_22758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.425_426del MANE Select	ENSP00000269228.4:p.Lys142ArgfsTer27
ENST00000269228.9:c.425_426del	ENSP00000269228.4:p.Lys142ArgfsTer27
ENST00000540608.5:n.339_340del
NM_000271.4:c.425_426del	NP_000262.2:p.Lys142ArgfsTer27
XM_005258277.1:c.425_426del	XP_005258334.1:p.Lys142ArgfsTer27
XM_005258278.3:c.425_426del	XP_005258335.1:p.Lys142ArgfsTer27
XM_005258279.1:c.425_426del	XP_005258336.1:p.Lys142ArgfsTer27
XM_006722479.2:c.425_426del	XP_006722542.1:p.Lys142ArgfsTer27
XM_011526015.1:c.-41_-40del	XP_011524317.1:n.-41_-40del
XM_005258278.5:c.425_426del	XP_005258335.1:p.Lys142ArgfsTer27
XM_005258279.2:c.425_426del	XP_005258336.1:p.Lys142ArgfsTer27
XM_006722479.3:c.425_426del	XP_006722542.1:p.Lys142ArgfsTer27
XM_017025784.1:c.425_426del	XP_016881273.1:p.Lys142ArgfsTer27
XM_017025785.1:c.425_426del	XP_016881274.1:p.Lys142ArgfsTer27
XM_017025786.1:c.425_426del	XP_016881275.1:p.Lys142ArgfsTer27
XM_017025787.1:c.425_426del	XP_016881276.1:p.Lys142ArgfsTer27
NM_000271.5:c.425_426del MANE Select	NP_000262.2:p.Lys142ArgfsTer27