Canonical Allele Identifier: CA2641278366

Gene: NPC1

Linked Data

• gnomAD v4: 18-23544948-C-CCCCCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544952_23544953insCGCCCC , CM000680.2:g.23544952_23544953insCGCCCC	GRCh38
NC_000018.9:g.21124916_21124917insCGCCCC , CM000680.1:g.21124916_21124917insCGCCCC	GRCh37
NC_000018.8:g.19378914_19378915insCGCCCC	NCBI36
NG_012795.1:g.46669_46670insCGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1947+11_1947+12insCGGGGG MANE Select	ENSP00000269228.4:n.1947+11_1947+12insCGGGGG
ENST00000269228.9:c.1947+11_1947+12insCGGGGG	ENSP00000269228.4:n.1947+11_1947+12insCGGGGG
ENST00000540608.5:n.1861+11_1861+12insCGGGGG
ENST00000591051.1:c.1025+11_1025+12insCGGGGG
NM_000271.4:c.1947+11_1947+12insCGGGGG	NP_000262.2:n.1947+11_1947+12insCGGGGG
XM_005258277.1:c.1998+11_1998+12insCGGGGG	XP_005258334.1:n.1998+11_1998+12insCGGGGG
XM_005258278.3:c.1998+11_1998+12insCGGGGG	XP_005258335.1:n.1998+11_1998+12insCGGGGG
XM_005258279.1:c.1947+11_1947+12insCGGGGG	XP_005258336.1:n.1947+11_1947+12insCGGGGG
XM_006722479.2:c.1998+11_1998+12insCGGGGG	XP_006722542.1:n.1998+11_1998+12insCGGGGG
XM_011526015.1:c.1533+11_1533+12insCGGGGG	XP_011524317.1:n.1533+11_1533+12insCGGGGG
XM_005258278.5:c.1998+11_1998+12insCGGGGG	XP_005258335.1:n.1998+11_1998+12insCGGGGG
XM_005258279.2:c.1947+11_1947+12insCGGGGG	XP_005258336.1:n.1947+11_1947+12insCGGGGG
XM_006722479.3:c.1998+11_1998+12insCGGGGG	XP_006722542.1:n.1998+11_1998+12insCGGGGG
XM_017025784.1:c.1998+11_1998+12insCGGGGG	XP_016881273.1:n.1998+11_1998+12insCGGGGG
XM_017025785.1:c.1998+11_1998+12insCGGGGG	XP_016881274.1:n.1998+11_1998+12insCGGGGG
XM_017025786.1:c.1947+11_1947+12insCGGGGG	XP_016881275.1:n.1947+11_1947+12insCGGGGG
XM_017025787.1:c.1947+11_1947+12insCGGGGG	XP_016881276.1:n.1947+11_1947+12insCGGGGG
NM_000271.5:c.1947+11_1947+12insCGGGGG MANE Select	NP_000262.2:n.1947+11_1947+12insCGGGGG