Canonical Allele Identifier: CA2625667620
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493595del , CM000676.2:g.74493595del GRCh38
NC_000014.8:g.74960298del , CM000676.1:g.74960298del GRCh37
NC_000014.7:g.74030051del NCBI36
NG_007117.1:g.4790del
NG_033074.1:g.4876del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-86del ENSP00000450887.1:n.-86del
ENST00000556009.5:c.147+439del