Canonical Allele Identifier: CA297078833

Gene: NPC1

Linked Data

• dbSNP Id: rs1044834228
• MyVariant Identifiers: chr18:g.21114814_21114826del (hg19) ; chr18:g.23534850_23534862del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23534852_23534864del , CM000680.2:g.23534852_23534864del	GRCh38
NC_000018.9:g.21114816_21114828del , CM000680.1:g.21114816_21114828del	GRCh37
NC_000018.8:g.19368814_19368826del	NCBI36
NG_012795.1:g.56756_56768del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3478-303_3478-291del MANE Select	ENSP00000269228.4:n.3478-303_3478-291del
ENST00000269228.9:c.3478-303_3478-291del	ENSP00000269228.4:n.3478-303_3478-291del
ENST00000586150.5:c.233-303_233-291del
ENST00000588867.1:n.233-303_233-291del
ENST00000591051.1:c.2556-303_2556-291del
ENST00000591107.6:c.155-303_155-291del
NM_000271.4:c.3478-303_3478-291del	NP_000262.2:n.3478-303_3478-291del
XM_005258277.1:c.3529-303_3529-291del	XP_005258334.1:n.3529-303_3529-291del
XM_005258278.3:c.3529-303_3529-291del	XP_005258335.1:n.3529-303_3529-291del
XM_005258279.1:c.3478-303_3478-291del	XP_005258336.1:n.3478-303_3478-291del
XM_006722479.2:c.3529-303_3529-291del	XP_006722542.1:n.3529-303_3529-291del
XM_011526015.1:c.3064-303_3064-291del	XP_011524317.1:n.3064-303_3064-291del
XM_005258278.5:c.3529-303_3529-291del	XP_005258335.1:n.3529-303_3529-291del
XM_005258279.2:c.3478-303_3478-291del	XP_005258336.1:n.3478-303_3478-291del
XM_006722479.3:c.3529-303_3529-291del	XP_006722542.1:n.3529-303_3529-291del
XM_017025784.1:c.3529-303_3529-291del	XP_016881273.1:n.3529-303_3529-291del
XM_017025785.1:c.3529-303_3529-291del	XP_016881274.1:n.3529-303_3529-291del
XM_017025786.1:c.3478-303_3478-291del	XP_016881275.1:n.3478-303_3478-291del
XM_017025787.1:c.3478-303_3478-291del	XP_016881276.1:n.3478-303_3478-291del
NM_000271.5:c.3478-303_3478-291del MANE Select	NP_000262.2:n.3478-303_3478-291del