Canonical Allele Identifier: CA988381256

Gene: NPC1

Linked Data

• dbSNP Id: rs2058537931
• gnomAD v3: 18-23532287-ATGAG-A
• gnomAD v4: 18-23532287-ATGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532288_23532291del , CM000680.2:g.23532288_23532291del	GRCh38
NC_000018.9:g.21112252_21112255del , CM000680.1:g.21112252_21112255del	GRCh37
NC_000018.8:g.19366250_19366253del	NCBI36
NG_012795.1:g.59327_59330del
NG_033119.1:g.33819_33822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3755-7_3755-4del MANE Select	ENSP00000269228.4:n.3755-7_3755-4del
ENST00000269228.9:c.3755-7_3755-4del	ENSP00000269228.4:n.3755-7_3755-4del
ENST00000586150.5:c.509+1064_509+1067del
ENST00000588867.1:n.1438-7_1438-4del
ENST00000590723.5:c.163+1064_163+1067del	ENSP00000464755.1:n.163+1064_163+1067del
ENST00000591051.1:c.2833-7_2833-4del
ENST00000591107.6:c.431+1064_431+1067del
ENST00000593280.2:c.86+1064_86+1067del
NM_000271.4:c.3755-7_3755-4del	NP_000262.2:n.3755-7_3755-4del
XM_005258277.1:c.3805+1064_3805+1067del	XP_005258334.1:n.3805+1064_3805+1067del
XM_005258278.3:c.3806-7_3806-4del	XP_005258335.1:n.3806-7_3806-4del
XM_005258279.1:c.3754+1064_3754+1067del	XP_005258336.1:n.3754+1064_3754+1067del
XM_006722479.2:c.3805+1064_3805+1067del	XP_006722542.1:n.3805+1064_3805+1067del
XM_011526015.1:c.3340+1064_3340+1067del	XP_011524317.1:n.3340+1064_3340+1067del
XM_005258278.5:c.3806-7_3806-4del	XP_005258335.1:n.3806-7_3806-4del
XM_005258279.2:c.3754+1064_3754+1067del	XP_005258336.1:n.3754+1064_3754+1067del
XM_006722479.3:c.3805+1064_3805+1067del	XP_006722542.1:n.3805+1064_3805+1067del
XM_017025784.1:c.3805+1064_3805+1067del	XP_016881273.1:n.3805+1064_3805+1067del
XM_017025785.1:c.3805+1064_3805+1067del	XP_016881274.1:n.3805+1064_3805+1067del
XM_017025786.1:c.3754+1064_3754+1067del	XP_016881275.1:n.3754+1064_3754+1067del
XM_017025787.1:c.3754+1064_3754+1067del	XP_016881276.1:n.3754+1064_3754+1067del
NM_000271.5:c.3755-7_3755-4del MANE Select	NP_000262.2:n.3755-7_3755-4del