Canonical Allele Identifier: CA2641272447

Gene: NPC1

Linked Data

• gnomAD v4: 18-23551728-C-CGTACGCAGTACAGAAAGTGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23551728_23551729insGTACGCAGTACAGAAAGTGCG , CM000680.2:g.23551728_23551729insGTACGCAGTACAGAAAGTGCG	GRCh38
NC_000018.9:g.21131692_21131693insGTACGCAGTACAGAAAGTGCG , CM000680.1:g.21131692_21131693insGTACGCAGTACAGAAAGTGCG	GRCh37
NC_000018.8:g.19385690_19385691insGTACGCAGTACAGAAAGTGCG	NCBI36
NG_012795.1:g.39889_39890insCGCACTTTCTGTACTGCGTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1554-2_1554-1insCGCACTTTCTGTACTGCGTAC MANE Select	ENSP00000269228.4:n.1554-2_1554-1insCGCACTTTCTGTACTGCGTAC
ENST00000269228.9:c.1554-2_1554-1insCGCACTTTCTGTACTGCGTAC	ENSP00000269228.4:n.1554-2_1554-1insCGCACTTTCTGTACTGCGTAC
ENST00000540608.5:n.1468-2_1468-1insCGCACTTTCTGTACTGCGTAC
ENST00000590301.1:n.229-2_229-1insCGCACTTTCTGTACTGCGTAC
ENST00000591051.1:c.835+3029_835+3030insCGCACTTTCTGTACTGCGTAC
NM_000271.4:c.1554-2_1554-1insCGCACTTTCTGTACTGCGTAC	NP_000262.2:n.1554-2_1554-1insCGCACTTTCTGTACTGCGTAC
XM_005258277.1:c.1605-2_1605-1insCGCACTTTCTGTACTGCGTAC	XP_005258334.1:n.1605-2_1605-1insCGCACTTTCTGTACTGCGTAC
XM_005258278.3:c.1605-2_1605-1insCGCACTTTCTGTACTGCGTAC	XP_005258335.1:n.1605-2_1605-1insCGCACTTTCTGTACTGCGTAC
XM_005258279.1:c.1554-2_1554-1insCGCACTTTCTGTACTGCGTAC	XP_005258336.1:n.1554-2_1554-1insCGCACTTTCTGTACTGCGTAC
XM_006722479.2:c.1605-2_1605-1insCGCACTTTCTGTACTGCGTAC	XP_006722542.1:n.1605-2_1605-1insCGCACTTTCTGTACTGCGTAC
XM_011526015.1:c.1140-2_1140-1insCGCACTTTCTGTACTGCGTAC	XP_011524317.1:n.1140-2_1140-1insCGCACTTTCTGTACTGCGTAC
XM_005258278.5:c.1605-2_1605-1insCGCACTTTCTGTACTGCGTAC	XP_005258335.1:n.1605-2_1605-1insCGCACTTTCTGTACTGCGTAC
XM_005258279.2:c.1554-2_1554-1insCGCACTTTCTGTACTGCGTAC	XP_005258336.1:n.1554-2_1554-1insCGCACTTTCTGTACTGCGTAC
XM_006722479.3:c.1605-2_1605-1insCGCACTTTCTGTACTGCGTAC	XP_006722542.1:n.1605-2_1605-1insCGCACTTTCTGTACTGCGTAC
XM_017025784.1:c.1605-2_1605-1insCGCACTTTCTGTACTGCGTAC	XP_016881273.1:n.1605-2_1605-1insCGCACTTTCTGTACTGCGTAC
XM_017025785.1:c.1605-2_1605-1insCGCACTTTCTGTACTGCGTAC	XP_016881274.1:n.1605-2_1605-1insCGCACTTTCTGTACTGCGTAC
XM_017025786.1:c.1554-2_1554-1insCGCACTTTCTGTACTGCGTAC	XP_016881275.1:n.1554-2_1554-1insCGCACTTTCTGTACTGCGTAC
XM_017025787.1:c.1554-2_1554-1insCGCACTTTCTGTACTGCGTAC	XP_016881276.1:n.1554-2_1554-1insCGCACTTTCTGTACTGCGTAC
NM_000271.5:c.1554-2_1554-1insCGCACTTTCTGTACTGCGTAC MANE Select	NP_000262.2:n.1554-2_1554-1insCGCACTTTCTGTACTGCGTAC