Canonical Allele Identifier: CA8913320

Gene: NPC1

Linked Data

• ClinVar Variation Id: 499387
• ClinVar RCV Id: RCV000593842 ; RCV002062045 ; RCV003945403
• dbSNP Id: rs1555634676
• ExAC: 18:21124913 C / CCCG
• gnomAD v2: 18-21124913-C-CCCG
• gnomAD v3: 18-23544949-C-CCCG
• gnomAD v4: 18-23544949-C-CCCG
• MyVariant Identifiers: chr18:g.21124913_21124914insCCG (hg19) ; chr18:g.23544949_23544950insCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544951_23544952insGCC , CM000680.2:g.23544951_23544952insGCC	GRCh38
NC_000018.9:g.21124915_21124916insGCC , CM000680.1:g.21124915_21124916insGCC	GRCh37
NC_000018.8:g.19378913_19378914insGCC	NCBI36
NG_012795.1:g.46668_46669insCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1947+10_1947+11insCGG MANE Select	ENSP00000269228.4:n.1947+10_1947+11insCGG
ENST00000269228.9:c.1947+10_1947+11insCGG	ENSP00000269228.4:n.1947+10_1947+11insCGG
ENST00000540608.5:n.1861+10_1861+11insCGG
ENST00000591051.1:c.1025+10_1025+11insCGG
NM_000271.4:c.1947+10_1947+11insCGG	NP_000262.2:n.1947+10_1947+11insCGG
XM_005258277.1:c.1998+10_1998+11insCGG	XP_005258334.1:n.1998+10_1998+11insCGG
XM_005258278.3:c.1998+10_1998+11insCGG	XP_005258335.1:n.1998+10_1998+11insCGG
XM_005258279.1:c.1947+10_1947+11insCGG	XP_005258336.1:n.1947+10_1947+11insCGG
XM_006722479.2:c.1998+10_1998+11insCGG	XP_006722542.1:n.1998+10_1998+11insCGG
XM_011526015.1:c.1533+10_1533+11insCGG	XP_011524317.1:n.1533+10_1533+11insCGG
XM_005258278.5:c.1998+10_1998+11insCGG	XP_005258335.1:n.1998+10_1998+11insCGG
XM_005258279.2:c.1947+10_1947+11insCGG	XP_005258336.1:n.1947+10_1947+11insCGG
XM_006722479.3:c.1998+10_1998+11insCGG	XP_006722542.1:n.1998+10_1998+11insCGG
XM_017025784.1:c.1998+10_1998+11insCGG	XP_016881273.1:n.1998+10_1998+11insCGG
XM_017025785.1:c.1998+10_1998+11insCGG	XP_016881274.1:n.1998+10_1998+11insCGG
XM_017025786.1:c.1947+10_1947+11insCGG	XP_016881275.1:n.1947+10_1947+11insCGG
XM_017025787.1:c.1947+10_1947+11insCGG	XP_016881276.1:n.1947+10_1947+11insCGG
NM_000271.5:c.1947+10_1947+11insCGG MANE Select	NP_000262.2:n.1947+10_1947+11insCGG