Canonical Allele Identifier: CA2641278435

Gene: NPC1

Linked Data

• gnomAD v4: 18-23535673-GTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535674_23535675del , CM000680.2:g.23535674_23535675del	GRCh38
NC_000018.9:g.21115638_21115639del , CM000680.1:g.21115638_21115639del	GRCh37
NC_000018.8:g.19369636_19369637del	NCBI36
NG_012795.1:g.55943_55944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3271_3272del MANE Select	ENSP00000269228.4:p.Tyr1091ProfsTer5
ENST00000269228.9:c.3271_3272del	ENSP00000269228.4:p.Tyr1091ProfsTer5
ENST00000586150.5:c.26_27del
ENST00000588867.1:n.26_27del
ENST00000591051.1:c.2349_2350del
NM_000271.4:c.3271_3272del	NP_000262.2:p.Tyr1091ProfsTer5
XM_005258277.1:c.3322_3323del	XP_005258334.1:p.Tyr1108ProfsTer5
XM_005258278.3:c.3322_3323del	XP_005258335.1:p.Tyr1108ProfsTer5
XM_005258279.1:c.3271_3272del	XP_005258336.1:p.Tyr1091ProfsTer5
XM_006722479.2:c.3322_3323del	XP_006722542.1:p.Tyr1108ProfsTer5
XM_011526015.1:c.2857_2858del	XP_011524317.1:p.Tyr953ProfsTer5
XM_005258278.5:c.3322_3323del	XP_005258335.1:p.Tyr1108ProfsTer5
XM_005258279.2:c.3271_3272del	XP_005258336.1:p.Tyr1091ProfsTer5
XM_006722479.3:c.3322_3323del	XP_006722542.1:p.Tyr1108ProfsTer5
XM_017025784.1:c.3322_3323del	XP_016881273.1:p.Tyr1108ProfsTer5
XM_017025785.1:c.3322_3323del	XP_016881274.1:p.Tyr1108ProfsTer5
XM_017025786.1:c.3271_3272del	XP_016881275.1:p.Tyr1091ProfsTer5
XM_017025787.1:c.3271_3272del	XP_016881276.1:p.Tyr1091ProfsTer5
NM_000271.5:c.3271_3272del MANE Select	NP_000262.2:p.Tyr1091ProfsTer5