Canonical Allele Identifier: CA2290176126

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23561318_23561324delinsACAATAT , CM000680.2:g.23561318_23561324delinsACAATAT	GRCh38
NC_000018.9:g.21141282_21141288delinsACAATAT , CM000680.1:g.21141282_21141288delinsACAATAT	GRCh37
NC_000018.8:g.19395280_19395286delinsACAATAT	NCBI36
NG_012795.1:g.30294_30300delinsATATTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.631+36_631+42delinsATATTGT MANE Select	ENSP00000269228.4:n.631+36_631+42delinsATATTGT
ENST00000269228.9:c.631+36_631+42delinsATATTGT	ENSP00000269228.4:n.631+36_631+42delinsATATTGT
ENST00000540608.5:n.545+36_545+42delinsATATTGT
NM_000271.4:c.631+36_631+42delinsATATTGT	NP_000262.2:n.631+36_631+42delinsATATTGT
XM_005258277.1:c.631+36_631+42delinsATATTGT	XP_005258334.1:n.631+36_631+42delinsATATTGT
XM_005258278.3:c.631+36_631+42delinsATATTGT	XP_005258335.1:n.631+36_631+42delinsATATTGT
XM_005258279.1:c.631+36_631+42delinsATATTGT	XP_005258336.1:n.631+36_631+42delinsATATTGT
XM_006722479.2:c.631+36_631+42delinsATATTGT	XP_006722542.1:n.631+36_631+42delinsATATTGT
XM_011526015.1:c.166+36_166+42delinsATATTGT	XP_011524317.1:n.166+36_166+42delinsATATTGT
XM_005258278.5:c.631+36_631+42delinsATATTGT	XP_005258335.1:n.631+36_631+42delinsATATTGT
XM_005258279.2:c.631+36_631+42delinsATATTGT	XP_005258336.1:n.631+36_631+42delinsATATTGT
XM_006722479.3:c.631+36_631+42delinsATATTGT	XP_006722542.1:n.631+36_631+42delinsATATTGT
XM_017025784.1:c.631+36_631+42delinsATATTGT	XP_016881273.1:n.631+36_631+42delinsATATTGT
XM_017025785.1:c.631+36_631+42delinsATATTGT	XP_016881274.1:n.631+36_631+42delinsATATTGT
XM_017025786.1:c.631+36_631+42delinsATATTGT	XP_016881275.1:n.631+36_631+42delinsATATTGT
XM_017025787.1:c.631+36_631+42delinsATATTGT	XP_016881276.1:n.631+36_631+42delinsATATTGT
NM_000271.5:c.631+36_631+42delinsATATTGT MANE Select	NP_000262.2:n.631+36_631+42delinsATATTGT