Canonical Allele Identifier: CA2580088713

Gene: NPC2

Linked Data

• ClinVar Variation Id: 1724522
• ClinVar RCV Id: RCV002309790

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74484439_74484442delinsAAG , CM000676.2:g.74484439_74484442delinsAAG	GRCh38
NC_000014.8:g.74951142_74951145delinsAAG , CM000676.1:g.74951142_74951145delinsAAG	GRCh37
NC_000014.7:g.74020895_74020898delinsAAG	NCBI36
NG_007117.1:g.13940_13943delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.336_339delinsCTT MANE Select	ENSP00000451112.2:p.Lys112AsnfsTer4
ENST00000238633.6:c.336_339delinsCTT	ENSP00000238633.2:p.Lys112AsnfsTer4
ENST00000434013.6:c.336_339delinsCTT	ENSP00000412103.2:p.Lys112AsnfsTer4
ENST00000541064.5:c.336_339delinsCTT	ENSP00000442488.1:p.Lys112AsnfsTer4
ENST00000553490.5:c.336_339delinsCTT	ENSP00000451180.1:p.Lys112AsnfsTer4
ENST00000554482.1:c.158+1887_158+1890delinsCTT	ENSP00000451314.1:n.158+1887_158+1890delinsCTT
ENST00000555592.1:c.336_339delinsCTT	ENSP00000450887.1:p.Lys112AsnfsTer4
ENST00000555619.5:c.336_339delinsCTT	ENSP00000451112.1:p.Lys112AsnfsTer4
ENST00000556009.5:c.401_404delinsCTT
ENST00000557510.5:c.336_339delinsCTT	ENSP00000451206.1:p.Lys112AsnfsTer4
NM_006432.3:c.336_339delinsCTT	NP_006423.1:p.Lys112AsnfsTer4
NM_001363688.1:c.336_339delinsCTT	NP_001350617.1:p.Lys112AsnfsTer4
NM_006432.4:c.336_339delinsCTT	NP_006423.1:p.Lys112AsnfsTer4
NM_001375440.1:c.336_339delinsCTT	NP_001362369.1:p.Lys112AsnfsTer4
NM_006432.5:c.336_339delinsCTT MANE Select	NP_006423.1:p.Lys112AsnfsTer4