Canonical Allele Identifier: CA2580088731

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74486371_74486372del , CM000676.2:g.74486371_74486372del	GRCh38
NC_000014.8:g.74953074_74953075del , CM000676.1:g.74953074_74953075del	GRCh37
NC_000014.7:g.74022827_74022828del	NCBI36
NG_007117.1:g.12011_12012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.148_149del MANE Select	ENSP00000451112.2:p.Ser50GlnfsTer18
ENST00000238633.6:c.148_149del	ENSP00000238633.2:p.Ser50GlnfsTer18
ENST00000434013.6:c.148_149del	ENSP00000412103.2:p.Ser50GlnfsTer18
ENST00000541064.5:c.148_149del	ENSP00000442488.1:p.Ser50GlnfsTer18
ENST00000553490.5:c.148_149del	ENSP00000451180.1:p.Ser50GlnfsTer18
ENST00000554482.1:c.116_117del	ENSP00000451314.1:p.Glu39AlafsTer?
ENST00000555592.1:c.148_149del	ENSP00000450887.1:p.Ser50GlnfsTer18
ENST00000555619.5:c.148_149del	ENSP00000451112.1:p.Ser50GlnfsTer18
ENST00000556009.5:c.213_214del
ENST00000557510.5:c.148_149del	ENSP00000451206.1:p.Ser50GlnfsTer18
NM_006432.3:c.148_149del	NP_006423.1:p.Ser50GlnfsTer18
NM_001363688.1:c.148_149del	NP_001350617.1:p.Ser50GlnfsTer18
NM_006432.4:c.148_149del	NP_006423.1:p.Ser50GlnfsTer18
NM_001375440.1:c.148_149del	NP_001362369.1:p.Ser50GlnfsTer18
NM_006432.5:c.148_149del MANE Select	NP_006423.1:p.Ser50GlnfsTer18