Canonical Allele Identifier: CA2290162251
Gene: NPC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23532453_23532454delinsGA , CM000680.2:g.23532453_23532454delinsGA GRCh38
NC_000018.9:g.21112417_21112418delinsGA , CM000680.1:g.21112417_21112418delinsGA GRCh37
NC_000018.8:g.19366415_19366416delinsGA NCBI36
NG_012795.1:g.59164_59165delinsTC
NG_033119.1:g.33984_33985delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000269228.10:c.3755-170_3755-169delinsTC MANE Select ENSP00000269228.4:n.3755-170_3755-169delinsTC
ENST00000269228.9:c.3755-170_3755-169delinsTC ENSP00000269228.4:n.3755-170_3755-169delinsTC
ENST00000586150.5:c.509+901_509+902delinsTC
ENST00000588867.1:n.1438-170_1438-169delinsTC
ENST00000590723.5:c.163+901_163+902delinsTC ENSP00000464755.1:n.163+901_163+902delinsTC
ENST00000591051.1:c.2833-170_2833-169delinsTC
ENST00000591107.6:c.431+901_431+902delinsTC
ENST00000593280.2:c.86+901_86+902delinsTC
NM_000271.4:c.3755-170_3755-169delinsTC NP_000262.2:n.3755-170_3755-169delinsTC
XM_005258277.1:c.3805+901_3805+902delinsTC XP_005258334.1:n.3805+901_3805+902delinsTC
XM_005258278.3:c.3806-170_3806-169delinsTC XP_005258335.1:n.3806-170_3806-169delinsTC
XM_005258279.1:c.3754+901_3754+902delinsTC XP_005258336.1:n.3754+901_3754+902delinsTC
XM_006722479.2:c.3805+901_3805+902delinsTC XP_006722542.1:n.3805+901_3805+902delinsTC
XM_011526015.1:c.3340+901_3340+902delinsTC XP_011524317.1:n.3340+901_3340+902delinsTC
XM_005258278.5:c.3806-170_3806-169delinsTC XP_005258335.1:n.3806-170_3806-169delinsTC
XM_005258279.2:c.3754+901_3754+902delinsTC XP_005258336.1:n.3754+901_3754+902delinsTC
XM_006722479.3:c.3805+901_3805+902delinsTC XP_006722542.1:n.3805+901_3805+902delinsTC
XM_017025784.1:c.3805+901_3805+902delinsTC XP_016881273.1:n.3805+901_3805+902delinsTC
XM_017025785.1:c.3805+901_3805+902delinsTC XP_016881274.1:n.3805+901_3805+902delinsTC
XM_017025786.1:c.3754+901_3754+902delinsTC XP_016881275.1:n.3754+901_3754+902delinsTC
XM_017025787.1:c.3754+901_3754+902delinsTC XP_016881276.1:n.3754+901_3754+902delinsTC
NM_000271.5:c.3755-170_3755-169delinsTC MANE Select NP_000262.2:n.3755-170_3755-169delinsTC