Canonical Allele Identifier: CA2625667499
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v4: 14-74493539-CTCCCCGCCCCGTTCCTTCCCTTTAGAGCACCTCTCCGGCTTCCTGGGTGCG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493548_74493598del , CM000676.2:g.74493548_74493598del GRCh38
NC_000014.8:g.74960251_74960301del , CM000676.1:g.74960251_74960301del GRCh37
NC_000014.7:g.74030004_74030054del NCBI36
NG_007117.1:g.4792_4842del
NG_033074.1:g.4829_4879del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-84_-64+30del
ENST00000556009.5:c.147+441_147+491del
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