Canonical Allele Identifier: CA2641273775

Gene: NPC1

Linked Data

• gnomAD v4: 18-23568706-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568708del , CM000680.2:g.23568708del	GRCh38
NC_000018.9:g.21148672del , CM000680.1:g.21148672del	GRCh37
NC_000018.8:g.19402670del	NCBI36
NG_012795.1:g.22911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.463+116del MANE Select	ENSP00000269228.4:n.463+116del
ENST00000269228.9:c.463+116del	ENSP00000269228.4:n.463+116del
ENST00000540608.5:n.377+116del
NM_000271.4:c.463+116del	NP_000262.2:n.463+116del
XM_005258277.1:c.463+116del	XP_005258334.1:n.463+116del
XM_005258278.3:c.463+116del	XP_005258335.1:n.463+116del
XM_005258279.1:c.463+116del	XP_005258336.1:n.463+116del
XM_006722479.2:c.463+116del	XP_006722542.1:n.463+116del
XM_011526015.1:c.-3+116del	XP_011524317.1:n.-3+116del
XM_005258278.5:c.463+116del	XP_005258335.1:n.463+116del
XM_005258279.2:c.463+116del	XP_005258336.1:n.463+116del
XM_006722479.3:c.463+116del	XP_006722542.1:n.463+116del
XM_017025784.1:c.463+116del	XP_016881273.1:n.463+116del
XM_017025785.1:c.463+116del	XP_016881274.1:n.463+116del
XM_017025786.1:c.463+116del	XP_016881275.1:n.463+116del
XM_017025787.1:c.463+116del	XP_016881276.1:n.463+116del
NM_000271.5:c.463+116del MANE Select	NP_000262.2:n.463+116del