Canonical Allele Identifier: CA2625667200

Gene: NPC2

Linked Data

• gnomAD v4: 14-74484425-TCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74484427_74484428del , CM000676.2:g.74484427_74484428del	GRCh38
NC_000014.8:g.74951130_74951131del , CM000676.1:g.74951130_74951131del	GRCh37
NC_000014.7:g.74020883_74020884del	NCBI36
NG_007117.1:g.13955_13956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.351_352del MANE Select	ENSP00000451112.2:p.Ser117ArgfsTer16
ENST00000238633.6:c.351_352del	ENSP00000238633.2:p.Ser117ArgfsTer16
ENST00000434013.6:c.351_352del	ENSP00000412103.2:p.Ser117ArgfsTer16
ENST00000541064.5:c.351_352del	ENSP00000442488.1:p.Ser117ArgfsTer?
ENST00000553490.5:c.351_352del	ENSP00000451180.1:p.Ser117ArgfsTer16
ENST00000554482.1:c.158+1902_158+1903del	ENSP00000451314.1:n.158+1902_158+1903del
ENST00000555592.1:c.351_352del	ENSP00000450887.1:p.Ser117ArgfsTer?
ENST00000555619.5:c.351_352del	ENSP00000451112.1:p.Ser117ArgfsTer16
ENST00000556009.5:c.416_417del
ENST00000557510.5:c.351_352del	ENSP00000451206.1:p.Ser117ArgfsTer16
NM_006432.3:c.351_352del	NP_006423.1:p.Ser117ArgfsTer16
NM_001363688.1:c.351_352del	NP_001350617.1:p.Ser117ArgfsTer16
NM_006432.4:c.351_352del	NP_006423.1:p.Ser117ArgfsTer16
NM_001375440.1:c.351_352del	NP_001362369.1:p.Ser117ArgfsTer?
NM_006432.5:c.351_352del MANE Select	NP_006423.1:p.Ser117ArgfsTer16