Canonical Allele Identifier: CA2625667337
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493477del , CM000676.2:g.74493477del GRCh38
NC_000014.8:g.74960180del , CM000676.1:g.74960180del GRCh37
NC_000014.7:g.74029933del NCBI36
NG_007117.1:g.4907del
NG_033074.1:g.4758del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+95del ENSP00000450887.1:n.-64+95del
ENST00000555619.5:c.-201del ENSP00000451112.1:n.-201del
ENST00000556009.5:c.147+556del
NM_001363688.1:c.-201del NP_001350617.1:n.-201del
NM_006432.4:c.-201del NP_006423.1:n.-201del