Canonical Allele Identifier: CA708507668

Gene: NPC2

Linked Data

• ClinVar Variation Id: 2982084
• ClinVar RCV Id: RCV003842730
• dbSNP Id: rs1320549584
• gnomAD v4: 14-74493256-TAGCTGCC-T
• MyVariant Identifiers: chr14:g.74959960_74959966del (hg19) ; chr14:g.74493257_74493263del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493259_74493265del , CM000676.2:g.74493259_74493265del	GRCh38
NC_000014.8:g.74959962_74959968del , CM000676.1:g.74959962_74959968del	GRCh37
NC_000014.7:g.74029715_74029721del	NCBI36
NG_007117.1:g.5119_5125del
NG_033074.1:g.4540_4546del

Transcript Alleles

HGVS	Amino-acid change
ENST00000555619.6:c.12_18del MANE Select	ENSP00000451112.2:p.Ala5HisfsTer28
ENST00000238633.6:c.12_18del	ENSP00000238633.2:p.Ala5HisfsTer28
ENST00000434013.6:c.12_18del	ENSP00000412103.2:p.Ala5HisfsTer28
ENST00000541064.5:c.12_18del	ENSP00000442488.1:p.Ala5HisfsTer28
ENST00000553490.5:c.12_18del	ENSP00000451180.1:p.Ala5HisfsTer28
ENST00000555592.1:c.12_18del	ENSP00000450887.1:p.Ala5HisfsTer28
ENST00000555619.5:c.12_18del	ENSP00000451112.1:p.Ala5HisfsTer28
ENST00000556009.5:c.147+768_147+774del
ENST00000557510.5:c.12_18del	ENSP00000451206.1:p.Ala5HisfsTer28
NM_006432.3:c.12_18del	NP_006423.1:p.Ala5HisfsTer28
NM_001363688.1:c.12_18del	NP_001350617.1:p.Ala5HisfsTer28
NM_006432.4:c.12_18del	NP_006423.1:p.Ala5HisfsTer28
NM_001375440.1:c.12_18del	NP_001362369.1:p.Ala5HisfsTer28
NM_006432.5:c.12_18del MANE Select	NP_006423.1:p.Ala5HisfsTer28