Canonical Allele Identifier: CA2625667498
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493539_74493540insA , CM000676.2:g.74493539_74493540insA GRCh38
NC_000014.8:g.74960242_74960243insA , CM000676.1:g.74960242_74960243insA GRCh37
NC_000014.7:g.74029995_74029996insA NCBI36
NG_007117.1:g.4842_4843insT
NG_033074.1:g.4820_4821insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+30_-64+31insT ENSP00000450887.1:n.-64+30_-64+31insT
ENST00000556009.5:c.147+491_147+492insT