Canonical Allele Identifier: CA2641278123

Gene: NPC1

Linked Data

• gnomAD v4: 18-23544943-A-ACCCCCCCCCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544952_23544953insCCCCCCCCCCCCCCCCCCCCCC , CM000680.2:g.23544952_23544953insCCCCCCCCCCCCCCCCCCCCCC	GRCh38
NC_000018.9:g.21124916_21124917insCCCCCCCCCCCCCCCCCCCCCC , CM000680.1:g.21124916_21124917insCCCCCCCCCCCCCCCCCCCCCC	GRCh37
NC_000018.8:g.19378914_19378915insCCCCCCCCCCCCCCCCCCCCCC	NCBI36
NG_012795.1:g.46674_46675insGGGGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000269228.4:n.1947+16_1947+17insGGG...
ENST00000269228.9:c.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGG	ENSP00000269228.4:n.1947+16_1947+17insGGG...
ENST00000540608.5:n.1861+16_1861+17insGGGGGGGGGGGGGGGGGGGGGG
ENST00000591051.1:c.1025+16_1025+17insGGGGGGGGGGGGGGGGGGGGGG
NM_000271.4:c.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGG	NP_000262.2:n.1947+16_1947+17insGGGGGGGGG...
XM_005258277.1:c.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGG	XP_005258334.1:n.1998+16_1998+17insGGGGGG...
XM_005258278.3:c.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGG	XP_005258335.1:n.1998+16_1998+17insGGGGGG...
XM_005258279.1:c.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGG	XP_005258336.1:n.1947+16_1947+17insGGGGGG...
XM_006722479.2:c.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGG	XP_006722542.1:n.1998+16_1998+17insGGGGGG...
XM_011526015.1:c.1533+16_1533+17insGGGGGGGGGGGGGGGGGGGGGG	XP_011524317.1:n.1533+16_1533+17insGGGGGG...
XM_005258278.5:c.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGG	XP_005258335.1:n.1998+16_1998+17insGGGGGG...
XM_005258279.2:c.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGG	XP_005258336.1:n.1947+16_1947+17insGGGGGG...
XM_006722479.3:c.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGG	XP_006722542.1:n.1998+16_1998+17insGGGGGG...
XM_017025784.1:c.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGG	XP_016881273.1:n.1998+16_1998+17insGGGGGG...
XM_017025785.1:c.1998+16_1998+17insGGGGGGGGGGGGGGGGGGGGGG	XP_016881274.1:n.1998+16_1998+17insGGGGGG...
XM_017025786.1:c.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGG	XP_016881275.1:n.1947+16_1947+17insGGGGGG...
XM_017025787.1:c.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGG	XP_016881276.1:n.1947+16_1947+17insGGGGGG...
NM_000271.5:c.1947+16_1947+17insGGGGGGGGGGGGGGGGGGGGGG MANE Select	NP_000262.2:n.1947+16_1947+17insGGGGGGGGG...