Canonical Allele Identifier: CA988383910

Gene: NPC1

Linked Data

• gnomAD v3: 18-23544945-C-CCCCCCCCCCCCCCCCCT
• gnomAD v4: 18-23544945-C-CCCCCCCCCCCCCCCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544952_23544953insCCCCCCCCCTCCCCCCC , CM000680.2:g.23544952_23544953insCCCCCCCCCTCCCCCCC	GRCh38
NC_000018.9:g.21124916_21124917insCCCCCCCCCTCCCCCCC , CM000680.1:g.21124916_21124917insCCCCCCCCCTCCCCCCC	GRCh37
NC_000018.8:g.19378914_19378915insCCCCCCCCCTCCCCCCC	NCBI36
NG_012795.1:g.46672_46673insAGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1947+14_1947+15insAGGGGGGGGGGGGGGGG MANE Select	ENSP00000269228.4:n.1947+14_1947+15insAGGGGGGGGGGGGGGGG
ENST00000269228.9:c.1947+14_1947+15insAGGGGGGGGGGGGGGGG	ENSP00000269228.4:n.1947+14_1947+15insAGGGGGGGGGGGGGGGG
ENST00000540608.5:n.1861+14_1861+15insAGGGGGGGGGGGGGGGG
ENST00000591051.1:c.1025+14_1025+15insAGGGGGGGGGGGGGGGG
NM_000271.4:c.1947+14_1947+15insAGGGGGGGGGGGGGGGG	NP_000262.2:n.1947+14_1947+15insAGGGGGGGGGGGGGGGG
XM_005258277.1:c.1998+14_1998+15insAGGGGGGGGGGGGGGGG	XP_005258334.1:n.1998+14_1998+15insAGGGGGGGGGGGGGGGG
XM_005258278.3:c.1998+14_1998+15insAGGGGGGGGGGGGGGGG	XP_005258335.1:n.1998+14_1998+15insAGGGGGGGGGGGGGGGG
XM_005258279.1:c.1947+14_1947+15insAGGGGGGGGGGGGGGGG	XP_005258336.1:n.1947+14_1947+15insAGGGGGGGGGGGGGGGG
XM_006722479.2:c.1998+14_1998+15insAGGGGGGGGGGGGGGGG	XP_006722542.1:n.1998+14_1998+15insAGGGGGGGGGGGGGGGG
XM_011526015.1:c.1533+14_1533+15insAGGGGGGGGGGGGGGGG	XP_011524317.1:n.1533+14_1533+15insAGGGGGGGGGGGGGGGG
XM_005258278.5:c.1998+14_1998+15insAGGGGGGGGGGGGGGGG	XP_005258335.1:n.1998+14_1998+15insAGGGGGGGGGGGGGGGG
XM_005258279.2:c.1947+14_1947+15insAGGGGGGGGGGGGGGGG	XP_005258336.1:n.1947+14_1947+15insAGGGGGGGGGGGGGGGG
XM_006722479.3:c.1998+14_1998+15insAGGGGGGGGGGGGGGGG	XP_006722542.1:n.1998+14_1998+15insAGGGGGGGGGGGGGGGG
XM_017025784.1:c.1998+14_1998+15insAGGGGGGGGGGGGGGGG	XP_016881273.1:n.1998+14_1998+15insAGGGGGGGGGGGGGGGG
XM_017025785.1:c.1998+14_1998+15insAGGGGGGGGGGGGGGGG	XP_016881274.1:n.1998+14_1998+15insAGGGGGGGGGGGGGGGG
XM_017025786.1:c.1947+14_1947+15insAGGGGGGGGGGGGGGGG	XP_016881275.1:n.1947+14_1947+15insAGGGGGGGGGGGGGGGG
XM_017025787.1:c.1947+14_1947+15insAGGGGGGGGGGGGGGGG	XP_016881276.1:n.1947+14_1947+15insAGGGGGGGGGGGGGGGG
NM_000271.5:c.1947+14_1947+15insAGGGGGGGGGGGGGGGG MANE Select	NP_000262.2:n.1947+14_1947+15insAGGGGGGGGGGGGGGGG