Canonical Allele Identifier: CA2695227257

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556538_23556539insC , CM000680.2:g.23556538_23556539insC	GRCh38
NC_000018.9:g.21136502_21136503insC , CM000680.1:g.21136502_21136503insC	GRCh37
NC_000018.8:g.19390500_19390501insC	NCBI36
NG_012795.1:g.35079_35080insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1030_1031insG MANE Select	ENSP00000269228.4:p.Ser344CysfsTer?
ENST00000269228.9:c.1030_1031insG	ENSP00000269228.4:p.Ser344CysfsTer?
ENST00000540608.5:n.944_945insG
ENST00000591051.1:c.312_313insG
NM_000271.4:c.1030_1031insG	NP_000262.2:p.Ser344CysfsTer?
XM_005258277.1:c.1081_1082insG	XP_005258334.1:p.Ser361CysfsTer?
XM_005258278.3:c.1081_1082insG	XP_005258335.1:p.Ser361CysfsTer?
XM_005258279.1:c.1030_1031insG	XP_005258336.1:p.Ser344CysfsTer?
XM_006722479.2:c.1081_1082insG	XP_006722542.1:p.Ser361CysfsTer?
XM_011526015.1:c.616_617insG	XP_011524317.1:p.Ser206CysfsTer?
XM_005258278.5:c.1081_1082insG	XP_005258335.1:p.Ser361CysfsTer?
XM_005258279.2:c.1030_1031insG	XP_005258336.1:p.Ser344CysfsTer?
XM_006722479.3:c.1081_1082insG	XP_006722542.1:p.Ser361CysfsTer?
XM_017025784.1:c.1081_1082insG	XP_016881273.1:p.Ser361CysfsTer?
XM_017025785.1:c.1081_1082insG	XP_016881274.1:p.Ser361CysfsTer?
XM_017025786.1:c.1030_1031insG	XP_016881275.1:p.Ser344CysfsTer?
XM_017025787.1:c.1030_1031insG	XP_016881276.1:p.Ser344CysfsTer?
NM_000271.5:c.1030_1031insG MANE Select	NP_000262.2:p.Ser344CysfsTer?