Canonical Allele Identifier: CA2595913932
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v3: 14-74493588-GCGT-G
gnomAD v4: 14-74493588-GCGT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493590_74493592del , CM000676.2:g.74493590_74493592del GRCh38
NC_000014.8:g.74960293_74960295del , CM000676.1:g.74960293_74960295del GRCh37
NC_000014.7:g.74030046_74030048del NCBI36
NG_007117.1:g.4791_4793del
NG_033074.1:g.4871_4873del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-85_-83del ENSP00000450887.1:n.-85_-83del
ENST00000556009.5:c.147+440_147+442del
Search 100 bp 5'
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