Canonical Allele Identifier: CA913014959

Gene: NPC1

Linked Data

• MyVariant Identifiers: chr18:g.21131616_21131617del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23551652_23551653del , CM000680.2:g.23551652_23551653del	GRCh38
NC_000018.9:g.21131616_21131617del , CM000680.1:g.21131616_21131617del	GRCh37
NC_000018.8:g.19385614_19385615del	NCBI36
NG_012795.1:g.39965_39966del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1628_1629del MANE Select	ENSP00000269228.4:p.Pro543LeufsTer8
ENST00000269228.9:c.1628_1629del	ENSP00000269228.4:p.Pro543LeufsTer8
ENST00000540608.5:n.1542_1543del
ENST00000590301.1:n.303_304del
ENST00000591051.1:c.835+3105_835+3106del
NM_000271.4:c.1628_1629del	NP_000262.2:p.Pro543LeufsTer8
XM_005258277.1:c.1679_1680del	XP_005258334.1:p.Pro560LeufsTer8
XM_005258278.3:c.1679_1680del	XP_005258335.1:p.Pro560LeufsTer8
XM_005258279.1:c.1628_1629del	XP_005258336.1:p.Pro543LeufsTer8
XM_006722479.2:c.1679_1680del	XP_006722542.1:p.Pro560LeufsTer8
XM_011526015.1:c.1214_1215del	XP_011524317.1:p.Pro405LeufsTer8
XM_005258278.5:c.1679_1680del	XP_005258335.1:p.Pro560LeufsTer8
XM_005258279.2:c.1628_1629del	XP_005258336.1:p.Pro543LeufsTer8
XM_006722479.3:c.1679_1680del	XP_006722542.1:p.Pro560LeufsTer8
XM_017025784.1:c.1679_1680del	XP_016881273.1:p.Pro560LeufsTer8
XM_017025785.1:c.1679_1680del	XP_016881274.1:p.Pro560LeufsTer8
XM_017025786.1:c.1628_1629del	XP_016881275.1:p.Pro543LeufsTer8
XM_017025787.1:c.1628_1629del	XP_016881276.1:p.Pro543LeufsTer8
NM_000271.5:c.1628_1629del MANE Select	NP_000262.2:p.Pro543LeufsTer8