Canonical Allele Identifier: CA919452164

Gene: NPC2

Linked Data

• dbSNP Id: rs1595228784

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493067_74493070del , CM000676.2:g.74493067_74493070del	GRCh38
NC_000014.8:g.74959770_74959773del , CM000676.1:g.74959770_74959773del	GRCh37
NC_000014.7:g.74029523_74029526del	NCBI36
NG_007117.1:g.5316_5319del
NG_033074.1:g.4348_4351del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.82+127_82+130del MANE Select	ENSP00000451112.2:n.82+127_82+130del
ENST00000238633.6:c.82+127_82+130del	ENSP00000238633.2:n.82+127_82+130del
ENST00000434013.6:c.82+127_82+130del	ENSP00000412103.2:n.82+127_82+130del
ENST00000541064.5:c.82+127_82+130del	ENSP00000442488.1:n.82+127_82+130del
ENST00000553490.5:c.82+127_82+130del	ENSP00000451180.1:n.82+127_82+130del
ENST00000554482.1:c.50+127_50+130del	ENSP00000451314.1:n.50+127_50+130del
ENST00000555592.1:c.82+127_82+130del	ENSP00000450887.1:n.82+127_82+130del
ENST00000555619.5:c.82+127_82+130del	ENSP00000451112.1:n.82+127_82+130del
ENST00000556009.5:c.147+965_147+968del
ENST00000557510.5:c.82+127_82+130del	ENSP00000451206.1:n.82+127_82+130del
NM_006432.3:c.82+127_82+130del	NP_006423.1:n.82+127_82+130del
NM_001363688.1:c.82+127_82+130del	NP_001350617.1:n.82+127_82+130del
NM_006432.4:c.82+127_82+130del	NP_006423.1:n.82+127_82+130del
NM_001375440.1:c.82+127_82+130del	NP_001362369.1:n.82+127_82+130del
NM_006432.5:c.82+127_82+130del MANE Select	NP_006423.1:n.82+127_82+130del