Canonical Allele Identifier: CA988383896

Gene: NPC1

Linked Data

• dbSNP Id: rs2058764490
• gnomAD v3: 18-23544944-C-CA
• gnomAD v4: 18-23544944-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544944_23544945insA , CM000680.2:g.23544944_23544945insA	GRCh38
NC_000018.9:g.21124908_21124909insA , CM000680.1:g.21124908_21124909insA	GRCh37
NC_000018.8:g.19378906_19378907insA	NCBI36
NG_012795.1:g.46673_46674insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1947+15_1947+16insT MANE Select	ENSP00000269228.4:n.1947+15_1947+16insT
ENST00000269228.9:c.1947+15_1947+16insT	ENSP00000269228.4:n.1947+15_1947+16insT
ENST00000540608.5:n.1861+15_1861+16insT
ENST00000591051.1:c.1025+15_1025+16insT
NM_000271.4:c.1947+15_1947+16insT	NP_000262.2:n.1947+15_1947+16insT
XM_005258277.1:c.1998+15_1998+16insT	XP_005258334.1:n.1998+15_1998+16insT
XM_005258278.3:c.1998+15_1998+16insT	XP_005258335.1:n.1998+15_1998+16insT
XM_005258279.1:c.1947+15_1947+16insT	XP_005258336.1:n.1947+15_1947+16insT
XM_006722479.2:c.1998+15_1998+16insT	XP_006722542.1:n.1998+15_1998+16insT
XM_011526015.1:c.1533+15_1533+16insT	XP_011524317.1:n.1533+15_1533+16insT
XM_005258278.5:c.1998+15_1998+16insT	XP_005258335.1:n.1998+15_1998+16insT
XM_005258279.2:c.1947+15_1947+16insT	XP_005258336.1:n.1947+15_1947+16insT
XM_006722479.3:c.1998+15_1998+16insT	XP_006722542.1:n.1998+15_1998+16insT
XM_017025784.1:c.1998+15_1998+16insT	XP_016881273.1:n.1998+15_1998+16insT
XM_017025785.1:c.1998+15_1998+16insT	XP_016881274.1:n.1998+15_1998+16insT
XM_017025786.1:c.1947+15_1947+16insT	XP_016881275.1:n.1947+15_1947+16insT
XM_017025787.1:c.1947+15_1947+16insT	XP_016881276.1:n.1947+15_1947+16insT
NM_000271.5:c.1947+15_1947+16insT MANE Select	NP_000262.2:n.1947+15_1947+16insT