Canonical Allele Identifier: CA2147070054

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493415_74493416delinsCG , CM000676.2:g.74493415_74493416delinsCG	GRCh38
NC_000014.8:g.74960118_74960119delinsCG , CM000676.1:g.74960118_74960119delinsCG	GRCh37
NC_000014.7:g.74029871_74029872delinsCG	NCBI36
NG_007117.1:g.4966_4967delinsCG
NG_033074.1:g.4696_4697delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-63-79_-63-78delinsCG	ENSP00000450887.1:n.-63-79_-63-78delinsCG
ENST00000555619.5:c.-142_-141delinsCG	ENSP00000451112.1:n.-142_-141delinsCG
ENST00000556009.5:c.147+615_147+616delinsCG
NM_001363688.1:c.-142_-141delinsCG	NP_001350617.1:n.-142_-141delinsCG
NM_006432.4:c.-142_-141delinsCG	NP_006423.1:n.-142_-141delinsCG