Canonical Allele Identifier: CA2625667633
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v4: 14-74493599-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493600del , CM000676.2:g.74493600del GRCh38
NC_000014.8:g.74960303del , CM000676.1:g.74960303del GRCh37
NC_000014.7:g.74030056del NCBI36
NG_007117.1:g.4782del
NG_033074.1:g.4881del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-94del ENSP00000450887.1:n.-94del
ENST00000556009.5:c.147+431del
Search 100 bp 5'
Search 100 bp 3'