Canonical Allele Identifier: CA988383527

Gene: NPC1

Linked Data

• dbSNP Id: rs770879191
• gnomAD v3: 18-23544940-A-ACCCCCCC
• gnomAD v4: 18-23544940-A-ACCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544942_23544943insCCCCCCC , CM000680.2:g.23544942_23544943insCCCCCCC	GRCh38
NC_000018.9:g.21124906_21124907insCCCCCCC , CM000680.1:g.21124906_21124907insCCCCCCC	GRCh37
NC_000018.8:g.19378904_19378905insCCCCCCC	NCBI36
NG_012795.1:g.46677_46678insGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1947+19_1947+20insGGGGGGG MANE Select	ENSP00000269228.4:n.1947+19_1947+20insGGGGGGG
ENST00000269228.9:c.1947+19_1947+20insGGGGGGG	ENSP00000269228.4:n.1947+19_1947+20insGGGGGGG
ENST00000540608.5:n.1861+19_1861+20insGGGGGGG
ENST00000591051.1:c.1025+19_1025+20insGGGGGGG
NM_000271.4:c.1947+19_1947+20insGGGGGGG	NP_000262.2:n.1947+19_1947+20insGGGGGGG
XM_005258277.1:c.1998+19_1998+20insGGGGGGG	XP_005258334.1:n.1998+19_1998+20insGGGGGGG
XM_005258278.3:c.1998+19_1998+20insGGGGGGG	XP_005258335.1:n.1998+19_1998+20insGGGGGGG
XM_005258279.1:c.1947+19_1947+20insGGGGGGG	XP_005258336.1:n.1947+19_1947+20insGGGGGGG
XM_006722479.2:c.1998+19_1998+20insGGGGGGG	XP_006722542.1:n.1998+19_1998+20insGGGGGGG
XM_011526015.1:c.1533+19_1533+20insGGGGGGG	XP_011524317.1:n.1533+19_1533+20insGGGGGGG
XM_005258278.5:c.1998+19_1998+20insGGGGGGG	XP_005258335.1:n.1998+19_1998+20insGGGGGGG
XM_005258279.2:c.1947+19_1947+20insGGGGGGG	XP_005258336.1:n.1947+19_1947+20insGGGGGGG
XM_006722479.3:c.1998+19_1998+20insGGGGGGG	XP_006722542.1:n.1998+19_1998+20insGGGGGGG
XM_017025784.1:c.1998+19_1998+20insGGGGGGG	XP_016881273.1:n.1998+19_1998+20insGGGGGGG
XM_017025785.1:c.1998+19_1998+20insGGGGGGG	XP_016881274.1:n.1998+19_1998+20insGGGGGGG
XM_017025786.1:c.1947+19_1947+20insGGGGGGG	XP_016881275.1:n.1947+19_1947+20insGGGGGGG
XM_017025787.1:c.1947+19_1947+20insGGGGGGG	XP_016881276.1:n.1947+19_1947+20insGGGGGGG
NM_000271.5:c.1947+19_1947+20insGGGGGGG MANE Select	NP_000262.2:n.1947+19_1947+20insGGGGGGG