Canonical Allele Identifier: CA964719324
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs2086801124
gnomAD v3: 14-74493423-GC-G
gnomAD v4: 14-74493423-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493424del , CM000676.2:g.74493424del GRCh38
NC_000014.8:g.74960127del , CM000676.1:g.74960127del GRCh37
NC_000014.7:g.74029880del NCBI36
NG_007117.1:g.4958del
NG_033074.1:g.4705del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-63-87del ENSP00000450887.1:n.-63-87del
ENST00000555619.5:c.-150del ENSP00000451112.1:n.-150del
ENST00000556009.5:c.147+607del
NM_001363688.1:c.-150del NP_001350617.1:n.-150del
NM_006432.4:c.-150del NP_006423.1:n.-150del
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