Canonical Allele Identifier: CA988384006

Gene: NPC1

Linked Data

• gnomAD v3: 18-23544949-C-CCCCCCCCCCCCCCCCCCCCA
• gnomAD v4: 18-23544949-C-CCCCCCCCCCCCCCCCCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544952_23544953insCCCCCCCCCCCCCCCCACCC , CM000680.2:g.23544952_23544953insCCCCCCCCCCCCCCCCACCC	GRCh38
NC_000018.9:g.21124916_21124917insCCCCCCCCCCCCCCCCACCC , CM000680.1:g.21124916_21124917insCCCCCCCCCCCCCCCCACCC	GRCh37
NC_000018.8:g.19378914_19378915insCCCCCCCCCCCCCCCCACCC	NCBI36
NG_012795.1:g.46668_46669insTGGGGGGGGGGGGGGGGGGG

Transcript Alleles

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