Canonical Allele Identifier: CA2290163753

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535304_23535315delinsATCCAGCACTCC , CM000680.2:g.23535304_23535315delinsATCCAGCACTCC	GRCh38
NC_000018.9:g.21115268_21115279delinsATCCAGCACTCC , CM000680.1:g.21115268_21115279delinsATCCAGCACTCC	GRCh37
NC_000018.8:g.19369266_19369277delinsATCCAGCACTCC	NCBI36
NG_012795.1:g.56303_56314delinsGGAGTGCTGGAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3477+154_3477+165delinsGGAGTGCTGGAT MANE Select	ENSP00000269228.4:n.3477+154_3477+165delinsGGAGTGCTGGAT
ENST00000269228.9:c.3477+154_3477+165delinsGGAGTGCTGGAT	ENSP00000269228.4:n.3477+154_3477+165delinsGGAGTGCTGGAT
ENST00000586150.5:c.232+154_232+165delinsGGAGTGCTGGAT
ENST00000588867.1:n.232+154_232+165delinsGGAGTGCTGGAT
ENST00000591051.1:c.2555+154_2555+165delinsGGAGTGCTGGAT
ENST00000591107.6:c.154+154_154+165delinsGGAGTGCTGGAT
NM_000271.4:c.3477+154_3477+165delinsGGAGTGCTGGAT	NP_000262.2:n.3477+154_3477+165delinsGGAGTGCTGGAT
XM_005258277.1:c.3528+154_3528+165delinsGGAGTGCTGGAT	XP_005258334.1:n.3528+154_3528+165delinsGGAGTGCTGGAT
XM_005258278.3:c.3528+154_3528+165delinsGGAGTGCTGGAT	XP_005258335.1:n.3528+154_3528+165delinsGGAGTGCTGGAT
XM_005258279.1:c.3477+154_3477+165delinsGGAGTGCTGGAT	XP_005258336.1:n.3477+154_3477+165delinsGGAGTGCTGGAT
XM_006722479.2:c.3528+154_3528+165delinsGGAGTGCTGGAT	XP_006722542.1:n.3528+154_3528+165delinsGGAGTGCTGGAT
XM_011526015.1:c.3063+154_3063+165delinsGGAGTGCTGGAT	XP_011524317.1:n.3063+154_3063+165delinsGGAGTGCTGGAT
XM_005258278.5:c.3528+154_3528+165delinsGGAGTGCTGGAT	XP_005258335.1:n.3528+154_3528+165delinsGGAGTGCTGGAT
XM_005258279.2:c.3477+154_3477+165delinsGGAGTGCTGGAT	XP_005258336.1:n.3477+154_3477+165delinsGGAGTGCTGGAT
XM_006722479.3:c.3528+154_3528+165delinsGGAGTGCTGGAT	XP_006722542.1:n.3528+154_3528+165delinsGGAGTGCTGGAT
XM_017025784.1:c.3528+154_3528+165delinsGGAGTGCTGGAT	XP_016881273.1:n.3528+154_3528+165delinsGGAGTGCTGGAT
XM_017025785.1:c.3528+154_3528+165delinsGGAGTGCTGGAT	XP_016881274.1:n.3528+154_3528+165delinsGGAGTGCTGGAT
XM_017025786.1:c.3477+154_3477+165delinsGGAGTGCTGGAT	XP_016881275.1:n.3477+154_3477+165delinsGGAGTGCTGGAT
XM_017025787.1:c.3477+154_3477+165delinsGGAGTGCTGGAT	XP_016881276.1:n.3477+154_3477+165delinsGGAGTGCTGGAT
NM_000271.5:c.3477+154_3477+165delinsGGAGTGCTGGAT MANE Select	NP_000262.2:n.3477+154_3477+165delinsGGAGTGCTGGAT