Canonical Allele Identifier: CA8912648

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1396968
• ClinVar RCV Id: RCV001903268
• dbSNP Id: rs760529810
• ExAC: 18:21112252 TGAGA / T
• gnomAD v2: 18-21112252-TGAGA-T
• gnomAD v3: 18-23532288-TGAGA-T
• gnomAD v4: 18-23532288-TGAGA-T
• MyVariant Identifiers: chr18:g.21112253_21112256del (hg19) ; chr18:g.23532289_23532292del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532297_23532300del , CM000680.2:g.23532297_23532300del	GRCh38
NC_000018.9:g.21112261_21112264del , CM000680.1:g.21112261_21112264del	GRCh37
NC_000018.8:g.19366259_19366262del	NCBI36
NG_012795.1:g.59326_59329del
NG_033119.1:g.33828_33831del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3755-8_3755-5del MANE Select	ENSP00000269228.4:n.3755-8_3755-5del
ENST00000269228.9:c.3755-8_3755-5del	ENSP00000269228.4:n.3755-8_3755-5del
ENST00000586150.5:c.509+1063_509+1066del
ENST00000588867.1:n.1438-8_1438-5del
ENST00000590723.5:c.163+1063_163+1066del	ENSP00000464755.1:n.163+1063_163+1066del
ENST00000591051.1:c.2833-8_2833-5del
ENST00000591107.6:c.431+1063_431+1066del
ENST00000593280.2:c.86+1063_86+1066del
NM_000271.4:c.3755-8_3755-5del	NP_000262.2:n.3755-8_3755-5del
XM_005258277.1:c.3805+1063_3805+1066del	XP_005258334.1:n.3805+1063_3805+1066del
XM_005258278.3:c.3806-8_3806-5del	XP_005258335.1:n.3806-8_3806-5del
XM_005258279.1:c.3754+1063_3754+1066del	XP_005258336.1:n.3754+1063_3754+1066del
XM_006722479.2:c.3805+1063_3805+1066del	XP_006722542.1:n.3805+1063_3805+1066del
XM_011526015.1:c.3340+1063_3340+1066del	XP_011524317.1:n.3340+1063_3340+1066del
XM_005258278.5:c.3806-8_3806-5del	XP_005258335.1:n.3806-8_3806-5del
XM_005258279.2:c.3754+1063_3754+1066del	XP_005258336.1:n.3754+1063_3754+1066del
XM_006722479.3:c.3805+1063_3805+1066del	XP_006722542.1:n.3805+1063_3805+1066del
XM_017025784.1:c.3805+1063_3805+1066del	XP_016881273.1:n.3805+1063_3805+1066del
XM_017025785.1:c.3805+1063_3805+1066del	XP_016881274.1:n.3805+1063_3805+1066del
XM_017025786.1:c.3754+1063_3754+1066del	XP_016881275.1:n.3754+1063_3754+1066del
XM_017025787.1:c.3754+1063_3754+1066del	XP_016881276.1:n.3754+1063_3754+1066del
NM_000271.5:c.3755-8_3755-5del MANE Select	NP_000262.2:n.3755-8_3755-5del