Canonical Allele Identifier: CA988394355

Gene: NPC1

Linked Data

• dbSNP Id: rs2059033841
• gnomAD v3: 18-23561230-TG-T
• gnomAD v4: 18-23561230-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23561232del , CM000680.2:g.23561232del	GRCh38
NC_000018.9:g.21141196del , CM000680.1:g.21141196del	GRCh37
NC_000018.8:g.19395194del	NCBI36
NG_012795.1:g.30387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.631+129del MANE Select	ENSP00000269228.4:n.631+129del
ENST00000269228.9:c.631+129del	ENSP00000269228.4:n.631+129del
ENST00000540608.5:n.545+129del
NM_000271.4:c.631+129del	NP_000262.2:n.631+129del
XM_005258277.1:c.631+129del	XP_005258334.1:n.631+129del
XM_005258278.3:c.631+129del	XP_005258335.1:n.631+129del
XM_005258279.1:c.631+129del	XP_005258336.1:n.631+129del
XM_006722479.2:c.631+129del	XP_006722542.1:n.631+129del
XM_011526015.1:c.166+129del	XP_011524317.1:n.166+129del
XM_005258278.5:c.631+129del	XP_005258335.1:n.631+129del
XM_005258279.2:c.631+129del	XP_005258336.1:n.631+129del
XM_006722479.3:c.631+129del	XP_006722542.1:n.631+129del
XM_017025784.1:c.631+129del	XP_016881273.1:n.631+129del
XM_017025785.1:c.631+129del	XP_016881274.1:n.631+129del
XM_017025786.1:c.631+129del	XP_016881275.1:n.631+129del
XM_017025787.1:c.631+129del	XP_016881276.1:n.631+129del
NM_000271.5:c.631+129del MANE Select	NP_000262.2:n.631+129del