Canonical Allele Identifier: CA2290163619

Gene: NPC1

Linked Data

• dbSNP Id: rs2058606522

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535058_23535066del , CM000680.2:g.23535058_23535066del	GRCh38
NC_000018.9:g.21115022_21115030del , CM000680.1:g.21115022_21115030del	GRCh37
NC_000018.8:g.19369020_19369028del	NCBI36
NG_012795.1:g.56552_56560del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3477+403_3477+411del MANE Select	ENSP00000269228.4:n.3477+403_3477+411del
ENST00000269228.9:c.3477+403_3477+411del	ENSP00000269228.4:n.3477+403_3477+411del
ENST00000586150.5:c.232+403_232+411del
ENST00000588867.1:n.232+403_232+411del
ENST00000591051.1:c.2555+403_2555+411del
ENST00000591107.6:c.154+403_154+411del
NM_000271.4:c.3477+403_3477+411del	NP_000262.2:n.3477+403_3477+411del
XM_005258277.1:c.3528+403_3528+411del	XP_005258334.1:n.3528+403_3528+411del
XM_005258278.3:c.3528+403_3528+411del	XP_005258335.1:n.3528+403_3528+411del
XM_005258279.1:c.3477+403_3477+411del	XP_005258336.1:n.3477+403_3477+411del
XM_006722479.2:c.3528+403_3528+411del	XP_006722542.1:n.3528+403_3528+411del
XM_011526015.1:c.3063+403_3063+411del	XP_011524317.1:n.3063+403_3063+411del
XM_005258278.5:c.3528+403_3528+411del	XP_005258335.1:n.3528+403_3528+411del
XM_005258279.2:c.3477+403_3477+411del	XP_005258336.1:n.3477+403_3477+411del
XM_006722479.3:c.3528+403_3528+411del	XP_006722542.1:n.3528+403_3528+411del
XM_017025784.1:c.3528+403_3528+411del	XP_016881273.1:n.3528+403_3528+411del
XM_017025785.1:c.3528+403_3528+411del	XP_016881274.1:n.3528+403_3528+411del
XM_017025786.1:c.3477+403_3477+411del	XP_016881275.1:n.3477+403_3477+411del
XM_017025787.1:c.3477+403_3477+411del	XP_016881276.1:n.3477+403_3477+411del
NM_000271.5:c.3477+403_3477+411del MANE Select	NP_000262.2:n.3477+403_3477+411del