Canonical Allele Identifier: CA777715514

Gene: NPC1

Linked Data

• dbSNP Id: rs1297612917
• MyVariant Identifiers: chr18:g.21115280_21115290del (hg19) ; chr18:g.23535316_23535326del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535319_23535329del , CM000680.2:g.23535319_23535329del	GRCh38
NC_000018.9:g.21115283_21115293del , CM000680.1:g.21115283_21115293del	GRCh37
NC_000018.8:g.19369281_19369291del	NCBI36
NG_012795.1:g.56292_56302del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3477+143_3477+153del MANE Select	ENSP00000269228.4:n.3477+143_3477+153del
ENST00000269228.9:c.3477+143_3477+153del	ENSP00000269228.4:n.3477+143_3477+153del
ENST00000586150.5:c.232+143_232+153del
ENST00000588867.1:n.232+143_232+153del
ENST00000591051.1:c.2555+143_2555+153del
ENST00000591107.6:c.154+143_154+153del
NM_000271.4:c.3477+143_3477+153del	NP_000262.2:n.3477+143_3477+153del
XM_005258277.1:c.3528+143_3528+153del	XP_005258334.1:n.3528+143_3528+153del
XM_005258278.3:c.3528+143_3528+153del	XP_005258335.1:n.3528+143_3528+153del
XM_005258279.1:c.3477+143_3477+153del	XP_005258336.1:n.3477+143_3477+153del
XM_006722479.2:c.3528+143_3528+153del	XP_006722542.1:n.3528+143_3528+153del
XM_011526015.1:c.3063+143_3063+153del	XP_011524317.1:n.3063+143_3063+153del
XM_005258278.5:c.3528+143_3528+153del	XP_005258335.1:n.3528+143_3528+153del
XM_005258279.2:c.3477+143_3477+153del	XP_005258336.1:n.3477+143_3477+153del
XM_006722479.3:c.3528+143_3528+153del	XP_006722542.1:n.3528+143_3528+153del
XM_017025784.1:c.3528+143_3528+153del	XP_016881273.1:n.3528+143_3528+153del
XM_017025785.1:c.3528+143_3528+153del	XP_016881274.1:n.3528+143_3528+153del
XM_017025786.1:c.3477+143_3477+153del	XP_016881275.1:n.3477+143_3477+153del
XM_017025787.1:c.3477+143_3477+153del	XP_016881276.1:n.3477+143_3477+153del
NM_000271.5:c.3477+143_3477+153del MANE Select	NP_000262.2:n.3477+143_3477+153del