Canonical Allele Identifier: CA2695227248

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556330_23556331del , CM000680.2:g.23556330_23556331del	GRCh38
NC_000018.9:g.21136294_21136295del , CM000680.1:g.21136294_21136295del	GRCh37
NC_000018.8:g.19390292_19390293del	NCBI36
NG_012795.1:g.35290_35291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1241_1242del MANE Select	ENSP00000269228.4:p.Leu414HisfsTer2
ENST00000269228.9:c.1241_1242del	ENSP00000269228.4:p.Leu414HisfsTer2
ENST00000540608.5:n.1155_1156del
ENST00000591051.1:c.523_524del
NM_000271.4:c.1241_1242del	NP_000262.2:p.Leu414HisfsTer2
XM_005258277.1:c.1292_1293del	XP_005258334.1:p.Leu431HisfsTer2
XM_005258278.3:c.1292_1293del	XP_005258335.1:p.Leu431HisfsTer2
XM_005258279.1:c.1241_1242del	XP_005258336.1:p.Leu414HisfsTer2
XM_006722479.2:c.1292_1293del	XP_006722542.1:p.Leu431HisfsTer2
XM_011526015.1:c.827_828del	XP_011524317.1:p.Leu276HisfsTer2
XM_005258278.5:c.1292_1293del	XP_005258335.1:p.Leu431HisfsTer2
XM_005258279.2:c.1241_1242del	XP_005258336.1:p.Leu414HisfsTer2
XM_006722479.3:c.1292_1293del	XP_006722542.1:p.Leu431HisfsTer2
XM_017025784.1:c.1292_1293del	XP_016881273.1:p.Leu431HisfsTer2
XM_017025785.1:c.1292_1293del	XP_016881274.1:p.Leu431HisfsTer2
XM_017025786.1:c.1241_1242del	XP_016881275.1:p.Leu414HisfsTer2
XM_017025787.1:c.1241_1242del	XP_016881276.1:p.Leu414HisfsTer2
NM_000271.5:c.1241_1242del MANE Select	NP_000262.2:p.Leu414HisfsTer2