Canonical Allele Identifier: CA2290162142

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532288_23532292delinsTGAGA , CM000680.2:g.23532288_23532292delinsTGAGA	GRCh38
NC_000018.9:g.21112252_21112256delinsTGAGA , CM000680.1:g.21112252_21112256delinsTGAGA	GRCh37
NC_000018.8:g.19366250_19366254delinsTGAGA	NCBI36
NG_012795.1:g.59326_59330delinsTCTCA
NG_033119.1:g.33819_33823delinsTGAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3755-8_3755-4delinsTCTCA MANE Select	ENSP00000269228.4:n.3755-8_3755-4delinsTCTCA
ENST00000269228.9:c.3755-8_3755-4delinsTCTCA	ENSP00000269228.4:n.3755-8_3755-4delinsTCTCA
ENST00000586150.5:c.509+1063_509+1067delinsTCTCA
ENST00000588867.1:n.1438-8_1438-4delinsTCTCA
ENST00000590723.5:c.163+1063_163+1067delinsTCTCA	ENSP00000464755.1:n.163+1063_163+1067delinsTCTCA
ENST00000591051.1:c.2833-8_2833-4delinsTCTCA
ENST00000591107.6:c.431+1063_431+1067delinsTCTCA
ENST00000593280.2:c.86+1063_86+1067delinsTCTCA
NM_000271.4:c.3755-8_3755-4delinsTCTCA	NP_000262.2:n.3755-8_3755-4delinsTCTCA
XM_005258277.1:c.3805+1063_3805+1067delinsTCTCA	XP_005258334.1:n.3805+1063_3805+1067delinsTCTCA
XM_005258278.3:c.3806-8_3806-4delinsTCTCA	XP_005258335.1:n.3806-8_3806-4delinsTCTCA
XM_005258279.1:c.3754+1063_3754+1067delinsTCTCA	XP_005258336.1:n.3754+1063_3754+1067delinsTCTCA
XM_006722479.2:c.3805+1063_3805+1067delinsTCTCA	XP_006722542.1:n.3805+1063_3805+1067delinsTCTCA
XM_011526015.1:c.3340+1063_3340+1067delinsTCTCA	XP_011524317.1:n.3340+1063_3340+1067delinsTCTCA
XM_005258278.5:c.3806-8_3806-4delinsTCTCA	XP_005258335.1:n.3806-8_3806-4delinsTCTCA
XM_005258279.2:c.3754+1063_3754+1067delinsTCTCA	XP_005258336.1:n.3754+1063_3754+1067delinsTCTCA
XM_006722479.3:c.3805+1063_3805+1067delinsTCTCA	XP_006722542.1:n.3805+1063_3805+1067delinsTCTCA
XM_017025784.1:c.3805+1063_3805+1067delinsTCTCA	XP_016881273.1:n.3805+1063_3805+1067delinsTCTCA
XM_017025785.1:c.3805+1063_3805+1067delinsTCTCA	XP_016881274.1:n.3805+1063_3805+1067delinsTCTCA
XM_017025786.1:c.3754+1063_3754+1067delinsTCTCA	XP_016881275.1:n.3754+1063_3754+1067delinsTCTCA
XM_017025787.1:c.3754+1063_3754+1067delinsTCTCA	XP_016881276.1:n.3754+1063_3754+1067delinsTCTCA
NM_000271.5:c.3755-8_3755-4delinsTCTCA MANE Select	NP_000262.2:n.3755-8_3755-4delinsTCTCA