Canonical Allele Identifier: CA2573155193

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1407124
• ClinVar RCV Id: RCV001937717
• dbSNP Id: rs2145351971
• gnomAD v4: 18-23535690-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535692_23535693del , CM000680.2:g.23535692_23535693del	GRCh38
NC_000018.9:g.21115656_21115657del , CM000680.1:g.21115656_21115657del	GRCh37
NC_000018.8:g.19369654_19369655del	NCBI36
NG_012795.1:g.55926_55927del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3254_3255del MANE Select	ENSP00000269228.4:p.Tyr1085CysfsTer11
ENST00000269228.9:c.3254_3255del	ENSP00000269228.4:p.Tyr1085CysfsTer11
ENST00000586150.5:c.9_10del
ENST00000588867.1:n.9_10del
ENST00000591051.1:c.2332_2333del
NM_000271.4:c.3254_3255del	NP_000262.2:p.Tyr1085CysfsTer11
XM_005258277.1:c.3305_3306del	XP_005258334.1:p.Tyr1102CysfsTer11
XM_005258278.3:c.3305_3306del	XP_005258335.1:p.Tyr1102CysfsTer11
XM_005258279.1:c.3254_3255del	XP_005258336.1:p.Tyr1085CysfsTer11
XM_006722479.2:c.3305_3306del	XP_006722542.1:p.Tyr1102CysfsTer11
XM_011526015.1:c.2840_2841del	XP_011524317.1:p.Tyr947CysfsTer11
XM_005258278.5:c.3305_3306del	XP_005258335.1:p.Tyr1102CysfsTer11
XM_005258279.2:c.3254_3255del	XP_005258336.1:p.Tyr1085CysfsTer11
XM_006722479.3:c.3305_3306del	XP_006722542.1:p.Tyr1102CysfsTer11
XM_017025784.1:c.3305_3306del	XP_016881273.1:p.Tyr1102CysfsTer11
XM_017025785.1:c.3305_3306del	XP_016881274.1:p.Tyr1102CysfsTer11
XM_017025786.1:c.3254_3255del	XP_016881275.1:p.Tyr1085CysfsTer11
XM_017025787.1:c.3254_3255del	XP_016881276.1:p.Tyr1085CysfsTer11
NM_000271.5:c.3254_3255del MANE Select	NP_000262.2:p.Tyr1085CysfsTer11