Canonical Allele Identifier: CA2590759980

Gene: NPC1

Linked Data

• gnomAD v3: 18-23544946-C-CCCCCCCCCCCCCCCCCCCCCCCCA
• gnomAD v4: 18-23544946-C-CCCCCCCCCCCCCCCCCCCCCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544952_23544953insCCCCCCCCCCCCCCCCCACCCCCC , CM000680.2:g.23544952_23544953insCCCCCCCCCCCCCCCCCACCCCCC	GRCh38
NC_000018.9:g.21124916_21124917insCCCCCCCCCCCCCCCCCACCCCCC , CM000680.1:g.21124916_21124917insCCCCCCCCCCCCCCCCCACCCCCC	GRCh37
NC_000018.8:g.19378914_19378915insCCCCCCCCCCCCCCCCCACCCCCC	NCBI36
NG_012795.1:g.46671_46672insTGGGGGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1947+13_1947+14insTGGGGGGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000269228.4:n.1947+13_1947+14insTGGGGGGGGGGGGGGGGGGGGGG...
ENST00000269228.9:c.1947+13_1947+14insTGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000269228.4:n.1947+13_1947+14insTGGGGGGGGGGGGGGGGGGGGGG...
ENST00000540608.5:n.1861+13_1861+14insTGGGGGGGGGGGGGGGGGGGGGGG
ENST00000591051.1:c.1025+13_1025+14insTGGGGGGGGGGGGGGGGGGGGGGG
NM_000271.4:c.1947+13_1947+14insTGGGGGGGGGGGGGGGGGGGGGGG	NP_000262.2:n.1947+13_1947+14insTGGGGGGGGGGGGGGGGGGGGGGG
XM_005258277.1:c.1998+13_1998+14insTGGGGGGGGGGGGGGGGGGGGGGG	XP_005258334.1:n.1998+13_1998+14insTGGGGGGGGGGGGGGGGGGGGGGG
XM_005258278.3:c.1998+13_1998+14insTGGGGGGGGGGGGGGGGGGGGGGG	XP_005258335.1:n.1998+13_1998+14insTGGGGGGGGGGGGGGGGGGGGGGG
XM_005258279.1:c.1947+13_1947+14insTGGGGGGGGGGGGGGGGGGGGGGG	XP_005258336.1:n.1947+13_1947+14insTGGGGGGGGGGGGGGGGGGGGGGG
XM_006722479.2:c.1998+13_1998+14insTGGGGGGGGGGGGGGGGGGGGGGG	XP_006722542.1:n.1998+13_1998+14insTGGGGGGGGGGGGGGGGGGGGGGG
XM_011526015.1:c.1533+13_1533+14insTGGGGGGGGGGGGGGGGGGGGGGG	XP_011524317.1:n.1533+13_1533+14insTGGGGGGGGGGGGGGGGGGGGGGG
XM_005258278.5:c.1998+13_1998+14insTGGGGGGGGGGGGGGGGGGGGGGG	XP_005258335.1:n.1998+13_1998+14insTGGGGGGGGGGGGGGGGGGGGGGG
XM_005258279.2:c.1947+13_1947+14insTGGGGGGGGGGGGGGGGGGGGGGG	XP_005258336.1:n.1947+13_1947+14insTGGGGGGGGGGGGGGGGGGGGGGG
XM_006722479.3:c.1998+13_1998+14insTGGGGGGGGGGGGGGGGGGGGGGG	XP_006722542.1:n.1998+13_1998+14insTGGGGGGGGGGGGGGGGGGGGGGG
XM_017025784.1:c.1998+13_1998+14insTGGGGGGGGGGGGGGGGGGGGGGG	XP_016881273.1:n.1998+13_1998+14insTGGGGGGGGGGGGGGGGGGGGGGG
XM_017025785.1:c.1998+13_1998+14insTGGGGGGGGGGGGGGGGGGGGGGG	XP_016881274.1:n.1998+13_1998+14insTGGGGGGGGGGGGGGGGGGGGGGG
XM_017025786.1:c.1947+13_1947+14insTGGGGGGGGGGGGGGGGGGGGGGG	XP_016881275.1:n.1947+13_1947+14insTGGGGGGGGGGGGGGGGGGGGGGG
XM_017025787.1:c.1947+13_1947+14insTGGGGGGGGGGGGGGGGGGGGGGG	XP_016881276.1:n.1947+13_1947+14insTGGGGGGGGGGGGGGGGGGGGGGG
NM_000271.5:c.1947+13_1947+14insTGGGGGGGGGGGGGGGGGGGGGGG MANE Select	NP_000262.2:n.1947+13_1947+14insTGGGGGGGGGGGGGGGGGGGGGGG