Canonical Allele Identifier: CA2290162181
Gene: NPC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23532357_23532359delinsGCC , CM000680.2:g.23532357_23532359delinsGCC GRCh38
NC_000018.9:g.21112321_21112323delinsGCC , CM000680.1:g.21112321_21112323delinsGCC GRCh37
NC_000018.8:g.19366319_19366321delinsGCC NCBI36
NG_012795.1:g.59259_59261delinsGGC
NG_033119.1:g.33888_33890delinsGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000269228.10:c.3755-75_3755-73delinsGGC MANE Select ENSP00000269228.4:n.3755-75_3755-73delinsGGC
ENST00000269228.9:c.3755-75_3755-73delinsGGC ENSP00000269228.4:n.3755-75_3755-73delinsGGC
ENST00000586150.5:c.509+996_509+998delinsGGC
ENST00000588867.1:n.1438-75_1438-73delinsGGC
ENST00000590723.5:c.163+996_163+998delinsGGC ENSP00000464755.1:n.163+996_163+998delinsGGC
ENST00000591051.1:c.2833-75_2833-73delinsGGC
ENST00000591107.6:c.431+996_431+998delinsGGC
ENST00000593280.2:c.86+996_86+998delinsGGC
NM_000271.4:c.3755-75_3755-73delinsGGC NP_000262.2:n.3755-75_3755-73delinsGGC
XM_005258277.1:c.3805+996_3805+998delinsGGC XP_005258334.1:n.3805+996_3805+998delinsGGC
XM_005258278.3:c.3806-75_3806-73delinsGGC XP_005258335.1:n.3806-75_3806-73delinsGGC
XM_005258279.1:c.3754+996_3754+998delinsGGC XP_005258336.1:n.3754+996_3754+998delinsGGC
XM_006722479.2:c.3805+996_3805+998delinsGGC XP_006722542.1:n.3805+996_3805+998delinsGGC
XM_011526015.1:c.3340+996_3340+998delinsGGC XP_011524317.1:n.3340+996_3340+998delinsGGC
XM_005258278.5:c.3806-75_3806-73delinsGGC XP_005258335.1:n.3806-75_3806-73delinsGGC
XM_005258279.2:c.3754+996_3754+998delinsGGC XP_005258336.1:n.3754+996_3754+998delinsGGC
XM_006722479.3:c.3805+996_3805+998delinsGGC XP_006722542.1:n.3805+996_3805+998delinsGGC
XM_017025784.1:c.3805+996_3805+998delinsGGC XP_016881273.1:n.3805+996_3805+998delinsGGC
XM_017025785.1:c.3805+996_3805+998delinsGGC XP_016881274.1:n.3805+996_3805+998delinsGGC
XM_017025786.1:c.3754+996_3754+998delinsGGC XP_016881275.1:n.3754+996_3754+998delinsGGC
XM_017025787.1:c.3754+996_3754+998delinsGGC XP_016881276.1:n.3754+996_3754+998delinsGGC
NM_000271.5:c.3755-75_3755-73delinsGGC MANE Select NP_000262.2:n.3755-75_3755-73delinsGGC