Canonical Allele Identifier: CA2290165719

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539353_23539354delinsAC , CM000680.2:g.23539353_23539354delinsAC	GRCh38
NC_000018.9:g.21119317_21119318delinsAC , CM000680.1:g.21119317_21119318delinsAC	GRCh37
NC_000018.8:g.19373315_19373316delinsAC	NCBI36
NG_012795.1:g.52264_52265delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2911+1_2911+2delinsGT MANE Select	ENSP00000269228.4:n.2911+1_2911+2delinsGT...
ENST00000269228.9:c.2911+1_2911+2delinsGT	ENSP00000269228.4:n.2911+1_2911+2delinsGT...
ENST00000591051.1:c.1989+1_1989+2delinsGT
ENST00000591075.1:n.544+1_544+2delinsGT
NM_000271.4:c.2911+1_2911+2delinsGT	NP_000262.2:n.2911+1_2911+2delinsGT
XM_005258277.1:c.2962+1_2962+2delinsGT	XP_005258334.1:n.2962+1_2962+2delinsGT
XM_005258278.3:c.2962+1_2962+2delinsGT	XP_005258335.1:n.2962+1_2962+2delinsGT
XM_005258279.1:c.2911+1_2911+2delinsGT	XP_005258336.1:n.2911+1_2911+2delinsGT
XM_006722479.2:c.2962+1_2962+2delinsGT	XP_006722542.1:n.2962+1_2962+2delinsGT
XM_011526015.1:c.2497+1_2497+2delinsGT	XP_011524317.1:n.2497+1_2497+2delinsGT
XM_005258278.5:c.2962+1_2962+2delinsGT	XP_005258335.1:n.2962+1_2962+2delinsGT
XM_005258279.2:c.2911+1_2911+2delinsGT	XP_005258336.1:n.2911+1_2911+2delinsGT
XM_006722479.3:c.2962+1_2962+2delinsGT	XP_006722542.1:n.2962+1_2962+2delinsGT
XM_017025784.1:c.2962+1_2962+2delinsGT	XP_016881273.1:n.2962+1_2962+2delinsGT
XM_017025785.1:c.2962+1_2962+2delinsGT	XP_016881274.1:n.2962+1_2962+2delinsGT
XM_017025786.1:c.2911+1_2911+2delinsGT	XP_016881275.1:n.2911+1_2911+2delinsGT
XM_017025787.1:c.2911+1_2911+2delinsGT	XP_016881276.1:n.2911+1_2911+2delinsGT
NM_000271.5:c.2911+1_2911+2delinsGT MANE Select	NP_000262.2:n.2911+1_2911+2delinsGT