Canonical Allele Identifier: CA2580088718

Gene: NPC2

Linked Data

• ClinVar Variation Id: 1724387
• ClinVar RCV Id: RCV002309655

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74484528_74484529insTGGAATT , CM000676.2:g.74484528_74484529insTGGAATT	GRCh38
NC_000014.8:g.74951231_74951232insTGGAATT , CM000676.1:g.74951231_74951232insTGGAATT	GRCh37
NC_000014.7:g.74020984_74020985insTGGAATT	NCBI36
NG_007117.1:g.13853_13854insAATTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.249_250insAATTCCA MANE Select	ENSP00000451112.2:p.Pro84AsnfsTer8
ENST00000238633.6:c.249_250insAATTCCA	ENSP00000238633.2:p.Pro84AsnfsTer8
ENST00000434013.6:c.249_250insAATTCCA	ENSP00000412103.2:p.Pro84AsnfsTer8
ENST00000541064.5:c.249_250insAATTCCA	ENSP00000442488.1:p.Pro84AsnfsTer8
ENST00000553490.5:c.249_250insAATTCCA	ENSP00000451180.1:p.Pro84AsnfsTer8
ENST00000554482.1:c.158+1800_158+1801insAATTCCA	ENSP00000451314.1:n.158+1800_158+1801insAATTCCA
ENST00000555592.1:c.249_250insAATTCCA	ENSP00000450887.1:p.Pro84AsnfsTer8
ENST00000555619.5:c.249_250insAATTCCA	ENSP00000451112.1:p.Pro84AsnfsTer8
ENST00000556009.5:c.314_315insAATTCCA
ENST00000557510.5:c.249_250insAATTCCA	ENSP00000451206.1:p.Pro84AsnfsTer8
NM_006432.3:c.249_250insAATTCCA	NP_006423.1:p.Pro84AsnfsTer8
NM_001363688.1:c.249_250insAATTCCA	NP_001350617.1:p.Pro84AsnfsTer8
NM_006432.4:c.249_250insAATTCCA	NP_006423.1:p.Pro84AsnfsTer8
NM_001375440.1:c.249_250insAATTCCA	NP_001362369.1:p.Pro84AsnfsTer8
NM_006432.5:c.249_250insAATTCCA MANE Select	NP_006423.1:p.Pro84AsnfsTer8