Canonical Allele Identifier: CA342112

Gene: NPC2

Linked Data

• ClinVar Variation Id: 21459
• ClinVar RCV Id: RCV000020647
• dbSNP Id: rs80358265
• gnomAD v2: 14-74951148-AT-A
• gnomAD v3: 14-74484445-AT-A
• gnomAD v4: 14-74484445-AT-A
• MyVariant Identifiers: chr14:g.74951149del (hg19) ; chr14:g.74484446del (hg38)
• PubMed: PMID:11125141 ; PMID:20301473

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74484447del , CM000676.2:g.74484447del	GRCh38
NC_000014.8:g.74951150del , CM000676.1:g.74951150del	GRCh37
NC_000014.7:g.74020903del	NCBI36
NG_007117.1:g.13936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.332del MANE Select	ENSP00000451112.2:p.Asn111IlefsTer5
ENST00000238633.6:c.332del	ENSP00000238633.2:p.Asn111IlefsTer5
ENST00000434013.6:c.332del	ENSP00000412103.2:p.Asn111IlefsTer5
ENST00000541064.5:c.332del	ENSP00000442488.1:p.Asn111IlefsTer5
ENST00000553490.5:c.332del	ENSP00000451180.1:p.Asn111IlefsTer5
ENST00000554482.1:c.158+1883del	ENSP00000451314.1:n.158+1883del
ENST00000555592.1:c.332del	ENSP00000450887.1:p.Asn111IlefsTer5
ENST00000555619.5:c.332del	ENSP00000451112.1:p.Asn111IlefsTer5
ENST00000556009.5:c.397del
ENST00000557510.5:c.332del	ENSP00000451206.1:p.Asn111IlefsTer5
NM_006432.3:c.332del	NP_006423.1:p.Asn111IlefsTer5
NM_001363688.1:c.332del	NP_001350617.1:p.Asn111IlefsTer5
NM_006432.4:c.332del	NP_006423.1:p.Asn111IlefsTer5
NM_001375440.1:c.332del	NP_001362369.1:p.Asn111IlefsTer5
NM_006432.5:c.332del MANE Select	NP_006423.1:p.Asn111IlefsTer5