Canonical Allele Identifier: CA16041918

Gene: NPC1

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556536_23556537del , CM000680.2:g.23556536_23556537del	GRCh38
NC_000018.9:g.21136500_21136501del , CM000680.1:g.21136500_21136501del	GRCh37
NC_000018.8:g.19390498_19390499del	NCBI36
NG_012795.1:g.35082_35083del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1033_1034del MANE Select	ENSP00000269228.4:p.Phe345LeufsTer?
ENST00000269228.9:c.1033_1034del	ENSP00000269228.4:p.Phe345LeufsTer?
ENST00000540608.5:n.947_948del
ENST00000591051.1:c.315_316del
NM_000271.4:c.1033_1034del	NP_000262.2:p.Phe345LeufsTer?
XM_005258277.1:c.1084_1085del	XP_005258334.1:p.Phe362LeufsTer?
XM_005258278.3:c.1084_1085del	XP_005258335.1:p.Phe362LeufsTer?
XM_005258279.1:c.1033_1034del	XP_005258336.1:p.Phe345LeufsTer?
XM_006722479.2:c.1084_1085del	XP_006722542.1:p.Phe362LeufsTer?
XM_011526015.1:c.619_620del	XP_011524317.1:p.Phe207LeufsTer?
XM_005258278.5:c.1084_1085del	XP_005258335.1:p.Phe362LeufsTer?
XM_005258279.2:c.1033_1034del	XP_005258336.1:p.Phe345LeufsTer?
XM_006722479.3:c.1084_1085del	XP_006722542.1:p.Phe362LeufsTer?
XM_017025784.1:c.1084_1085del	XP_016881273.1:p.Phe362LeufsTer?
XM_017025785.1:c.1084_1085del	XP_016881274.1:p.Phe362LeufsTer?
XM_017025786.1:c.1033_1034del	XP_016881275.1:p.Phe345LeufsTer?
XM_017025787.1:c.1033_1034del	XP_016881276.1:p.Phe345LeufsTer?
NM_000271.5:c.1033_1034del MANE Select	NP_000262.2:p.Phe345LeufsTer?