Canonical Allele Identifier: CA8912647

Gene: NPC1

Linked Data

• ClinVar Variation Id: 702825
• ClinVar RCV Id: RCV000872122 ; RCV001555386
• dbSNP Id: rs760529810
• ExAC: 18:21112252 T / TGA
• gnomAD v2: 18-21112252-T-TGA
• gnomAD v3: 18-23532288-T-TGA
• gnomAD v4: 18-23532288-T-TGA
• COSMIC: COSM5432555 ; COSM5432556
• MyVariant Identifiers: chr18:g.21112256_21112257insGA (hg19) ; chr18:g.21112252_21112253insGA (hg19) ; chr18:g.23532292_23532293insGA (hg38) ; chr18:g.23532288_23532289insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532299_23532300dup , CM000680.2:g.23532299_23532300dup	GRCh38
NC_000018.9:g.21112263_21112264dup , CM000680.1:g.21112263_21112264dup	GRCh37
NC_000018.8:g.19366261_19366262dup	NCBI36
NG_012795.1:g.59328_59329dup
NG_033119.1:g.33830_33831dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3755-6_3755-5dup MANE Select	ENSP00000269228.4:n.3755-6_3755-5dup
ENST00000269228.9:c.3755-6_3755-5dup	ENSP00000269228.4:n.3755-6_3755-5dup
ENST00000586150.5:c.509+1065_509+1066dup
ENST00000588867.1:n.1438-6_1438-5dup
ENST00000590723.5:c.163+1065_163+1066dup	ENSP00000464755.1:n.163+1065_163+1066dup
ENST00000591051.1:c.2833-6_2833-5dup
ENST00000591107.6:c.431+1065_431+1066dup
ENST00000593280.2:c.86+1065_86+1066dup
NM_000271.4:c.3755-6_3755-5dup	NP_000262.2:n.3755-6_3755-5dup
XM_005258277.1:c.3805+1065_3805+1066dup	XP_005258334.1:n.3805+1065_3805+1066dup
XM_005258278.3:c.3806-6_3806-5dup	XP_005258335.1:n.3806-6_3806-5dup
XM_005258279.1:c.3754+1065_3754+1066dup	XP_005258336.1:n.3754+1065_3754+1066dup
XM_006722479.2:c.3805+1065_3805+1066dup	XP_006722542.1:n.3805+1065_3805+1066dup
XM_011526015.1:c.3340+1065_3340+1066dup	XP_011524317.1:n.3340+1065_3340+1066dup
XM_005258278.5:c.3806-6_3806-5dup	XP_005258335.1:n.3806-6_3806-5dup
XM_005258279.2:c.3754+1065_3754+1066dup	XP_005258336.1:n.3754+1065_3754+1066dup
XM_006722479.3:c.3805+1065_3805+1066dup	XP_006722542.1:n.3805+1065_3805+1066dup
XM_017025784.1:c.3805+1065_3805+1066dup	XP_016881273.1:n.3805+1065_3805+1066dup
XM_017025785.1:c.3805+1065_3805+1066dup	XP_016881274.1:n.3805+1065_3805+1066dup
XM_017025786.1:c.3754+1065_3754+1066dup	XP_016881275.1:n.3754+1065_3754+1066dup
XM_017025787.1:c.3754+1065_3754+1066dup	XP_016881276.1:n.3754+1065_3754+1066dup
NM_000271.5:c.3755-6_3755-5dup MANE Select	NP_000262.2:n.3755-6_3755-5dup