Canonical Allele Identifier: CA2641278425

Gene: NPC1

Linked Data

• gnomAD v4: 18-23544957-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544958del , CM000680.2:g.23544958del	GRCh38
NC_000018.9:g.21124922del , CM000680.1:g.21124922del	GRCh37
NC_000018.8:g.19378920del	NCBI36
NG_012795.1:g.46660del

Transcript Alleles

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