Canonical Allele Identifier: CA2641272314

Gene: NPC1

Linked Data

• gnomAD v4: 18-23551652-C-CGGGAACACTGGTCCACCAAACGTACCCAGACAA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23551656_23551688dup , CM000680.2:g.23551656_23551688dup	GRCh38
NC_000018.9:g.21131620_21131652dup , CM000680.1:g.21131620_21131652dup	GRCh37
NC_000018.8:g.19385618_19385650dup	NCBI36
NG_012795.1:g.39933_39965dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1596_1628dup MANE Select	ENSP00000269228.4:p.Pro543_Trp544insCysLe...
ENST00000269228.9:c.1596_1628dup	ENSP00000269228.4:p.Pro543_Trp544insCysLe...
ENST00000540608.5:n.1510_1542dup
ENST00000590301.1:n.271_303dup
ENST00000591051.1:c.835+3073_835+3105dup
NM_000271.4:c.1596_1628dup	NP_000262.2:p.Pro543_Trp544insCysLeuGlyTh...
XM_005258277.1:c.1647_1679dup	XP_005258334.1:p.Pro560_Trp561insCysLeuGl...
XM_005258278.3:c.1647_1679dup	XP_005258335.1:p.Pro560_Trp561insCysLeuGl...
XM_005258279.1:c.1596_1628dup	XP_005258336.1:p.Pro543_Trp544insCysLeuGl...
XM_006722479.2:c.1647_1679dup	XP_006722542.1:p.Pro560_Trp561insCysLeuGl...
XM_011526015.1:c.1182_1214dup	XP_011524317.1:p.Pro405_Trp406insCysLeuGl...
XM_005258278.5:c.1647_1679dup	XP_005258335.1:p.Pro560_Trp561insCysLeuGl...
XM_005258279.2:c.1596_1628dup	XP_005258336.1:p.Pro543_Trp544insCysLeuGl...
XM_006722479.3:c.1647_1679dup	XP_006722542.1:p.Pro560_Trp561insCysLeuGl...
XM_017025784.1:c.1647_1679dup	XP_016881273.1:p.Pro560_Trp561insCysLeuGl...
XM_017025785.1:c.1647_1679dup	XP_016881274.1:p.Pro560_Trp561insCysLeuGl...
XM_017025786.1:c.1596_1628dup	XP_016881275.1:p.Pro543_Trp544insCysLeuGl...
XM_017025787.1:c.1596_1628dup	XP_016881276.1:p.Pro543_Trp544insCysLeuGl...
NM_000271.5:c.1596_1628dup MANE Select	NP_000262.2:p.Pro543_Trp544insCysLeuGlyTh...