Canonical Allele Identifier: CA2695227236

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532205_23532287del , CM000680.2:g.23532205_23532287del	GRCh38
NC_000018.9:g.21112169_21112251del , CM000680.1:g.21112169_21112251del	GRCh37
NC_000018.8:g.19366167_19366249del	NCBI36
NG_012795.1:g.59334_59416del
NG_033119.1:g.33736_33818del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3755_3837del
ENST00000269228.9:c.3755_3837del
ENST00000586150.5:c.509+1071_509+1153del
ENST00000588867.1:n.1438_1520del
ENST00000590723.5:c.163+1071_163+1153del	ENSP00000464755.1:n.163+1071_163+1153del
ENST00000591051.1:c.2833_2915del
ENST00000591107.6:c.431+1071_431+1153del
ENST00000593280.2:c.86+1071_86+1153del
NM_000271.4:c.3755_3837del
XM_005258277.1:c.3805+1071_3805+1153del	XP_005258334.1:n.3805+1071_3805+1153del
XM_005258278.3:c.3806_3888del
XM_005258279.1:c.3754+1071_3754+1153del	XP_005258336.1:n.3754+1071_3754+1153del
XM_006722479.2:c.3805+1071_3805+1153del	XP_006722542.1:n.3805+1071_3805+1153del
XM_011526015.1:c.3340+1071_3340+1153del	XP_011524317.1:n.3340+1071_3340+1153del
XM_005258278.5:c.3806_3888del
XM_005258279.2:c.3754+1071_3754+1153del	XP_005258336.1:n.3754+1071_3754+1153del
XM_006722479.3:c.3805+1071_3805+1153del	XP_006722542.1:n.3805+1071_3805+1153del
XM_017025784.1:c.3805+1071_3805+1153del	XP_016881273.1:n.3805+1071_3805+1153del
XM_017025785.1:c.3805+1071_3805+1153del	XP_016881274.1:n.3805+1071_3805+1153del
XM_017025786.1:c.3754+1071_3754+1153del	XP_016881275.1:n.3754+1071_3754+1153del
XM_017025787.1:c.3754+1071_3754+1153del	XP_016881276.1:n.3754+1071_3754+1153del
NM_000271.5:c.3755_3837del