Canonical Allele Identifier: CA2290162203

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532386_23532389delinsCAGG , CM000680.2:g.23532386_23532389delinsCAGG	GRCh38
NC_000018.9:g.21112350_21112353delinsCAGG , CM000680.1:g.21112350_21112353delinsCAGG	GRCh37
NC_000018.8:g.19366348_19366351delinsCAGG	NCBI36
NG_012795.1:g.59229_59232delinsCCTG
NG_033119.1:g.33917_33920delinsCAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3755-105_3755-102delinsCCTG MANE Select	ENSP00000269228.4:n.3755-105_3755-102delinsCCTG
ENST00000269228.9:c.3755-105_3755-102delinsCCTG	ENSP00000269228.4:n.3755-105_3755-102delinsCCTG
ENST00000586150.5:c.509+966_509+969delinsCCTG
ENST00000588867.1:n.1438-105_1438-102delinsCCTG
ENST00000590723.5:c.163+966_163+969delinsCCTG	ENSP00000464755.1:n.163+966_163+969delinsCCTG
ENST00000591051.1:c.2833-105_2833-102delinsCCTG
ENST00000591107.6:c.431+966_431+969delinsCCTG
ENST00000593280.2:c.86+966_86+969delinsCCTG
NM_000271.4:c.3755-105_3755-102delinsCCTG	NP_000262.2:n.3755-105_3755-102delinsCCTG
XM_005258277.1:c.3805+966_3805+969delinsCCTG	XP_005258334.1:n.3805+966_3805+969delinsCCTG
XM_005258278.3:c.3806-105_3806-102delinsCCTG	XP_005258335.1:n.3806-105_3806-102delinsCCTG
XM_005258279.1:c.3754+966_3754+969delinsCCTG	XP_005258336.1:n.3754+966_3754+969delinsCCTG
XM_006722479.2:c.3805+966_3805+969delinsCCTG	XP_006722542.1:n.3805+966_3805+969delinsCCTG
XM_011526015.1:c.3340+966_3340+969delinsCCTG	XP_011524317.1:n.3340+966_3340+969delinsCCTG
XM_005258278.5:c.3806-105_3806-102delinsCCTG	XP_005258335.1:n.3806-105_3806-102delinsCCTG
XM_005258279.2:c.3754+966_3754+969delinsCCTG	XP_005258336.1:n.3754+966_3754+969delinsCCTG
XM_006722479.3:c.3805+966_3805+969delinsCCTG	XP_006722542.1:n.3805+966_3805+969delinsCCTG
XM_017025784.1:c.3805+966_3805+969delinsCCTG	XP_016881273.1:n.3805+966_3805+969delinsCCTG
XM_017025785.1:c.3805+966_3805+969delinsCCTG	XP_016881274.1:n.3805+966_3805+969delinsCCTG
XM_017025786.1:c.3754+966_3754+969delinsCCTG	XP_016881275.1:n.3754+966_3754+969delinsCCTG
XM_017025787.1:c.3754+966_3754+969delinsCCTG	XP_016881276.1:n.3754+966_3754+969delinsCCTG
NM_000271.5:c.3755-105_3755-102delinsCCTG MANE Select	NP_000262.2:n.3755-105_3755-102delinsCCTG