Canonical Allele Identifier: CA2625667403
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v4: 14-74493508-GGACCCACCTCCGCCCC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493510_74493525del , CM000676.2:g.74493510_74493525del GRCh38
NC_000014.8:g.74960213_74960228del , CM000676.1:g.74960213_74960228del GRCh37
NC_000014.7:g.74029966_74029981del NCBI36
NG_007117.1:g.4858_4873del
NG_033074.1:g.4791_4806del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+46_-64+61del ENSP00000450887.1:n.-64+46_-64+61del
ENST00000556009.5:c.147+507_147+522del
Search 100 bp 5'
Search 100 bp 3'