Canonical Allele Identifier: CA628978829

Gene: NPC1

Linked Data

• gnomAD v2: 18-21124918-G-GCCCCC
• MyVariant Identifiers: chr18:g.21124918_21124919insCCCCC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544955_23544956insCCCCC , CM000680.2:g.23544955_23544956insCCCCC	GRCh38
NC_000018.9:g.21124919_21124920insCCCCC , CM000680.1:g.21124919_21124920insCCCCC	GRCh37
NC_000018.8:g.19378917_19378918insCCCCC	NCBI36
NG_012795.1:g.46663_46664insGGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1947+5_1947+6insGGGGG MANE Select	ENSP00000269228.4:n.1947+5_1947+6insGGGGG
ENST00000269228.9:c.1947+5_1947+6insGGGGG	ENSP00000269228.4:n.1947+5_1947+6insGGGGG
ENST00000540608.5:n.1861+5_1861+6insGGGGG
ENST00000591051.1:c.1025+5_1025+6insGGGGG
NM_000271.4:c.1947+5_1947+6insGGGGG	NP_000262.2:n.1947+5_1947+6insGGGGG
XM_005258277.1:c.1998+5_1998+6insGGGGG	XP_005258334.1:n.1998+5_1998+6insGGGGG
XM_005258278.3:c.1998+5_1998+6insGGGGG	XP_005258335.1:n.1998+5_1998+6insGGGGG
XM_005258279.1:c.1947+5_1947+6insGGGGG	XP_005258336.1:n.1947+5_1947+6insGGGGG
XM_006722479.2:c.1998+5_1998+6insGGGGG	XP_006722542.1:n.1998+5_1998+6insGGGGG
XM_011526015.1:c.1533+5_1533+6insGGGGG	XP_011524317.1:n.1533+5_1533+6insGGGGG
XM_005258278.5:c.1998+5_1998+6insGGGGG	XP_005258335.1:n.1998+5_1998+6insGGGGG
XM_005258279.2:c.1947+5_1947+6insGGGGG	XP_005258336.1:n.1947+5_1947+6insGGGGG
XM_006722479.3:c.1998+5_1998+6insGGGGG	XP_006722542.1:n.1998+5_1998+6insGGGGG
XM_017025784.1:c.1998+5_1998+6insGGGGG	XP_016881273.1:n.1998+5_1998+6insGGGGG
XM_017025785.1:c.1998+5_1998+6insGGGGG	XP_016881274.1:n.1998+5_1998+6insGGGGG
XM_017025786.1:c.1947+5_1947+6insGGGGG	XP_016881275.1:n.1947+5_1947+6insGGGGG
XM_017025787.1:c.1947+5_1947+6insGGGGG	XP_016881276.1:n.1947+5_1947+6insGGGGG
NM_000271.5:c.1947+5_1947+6insGGGGG MANE Select	NP_000262.2:n.1947+5_1947+6insGGGGG