Canonical Allele Identifier: CA2147070108
Gene: NPC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493517_74493542delinsTCCGCCCCGCCCCGCCTCACTCCTCC , CM000676.2:g.74493517_74493542delinsTCCGCCCCGCCCCGCCTCACTCCTCC GRCh38
NC_000014.8:g.74960220_74960245delinsTCCGCCCCGCCCCGCCTCACTCCTCC , CM000676.1:g.74960220_74960245delinsTCCGCCCCGCCCCGCCTCACTCCTCC GRCh37
NC_000014.7:g.74029973_74029998delinsTCCGCCCCGCCCCGCCTCACTCCTCC NCBI36
NG_007117.1:g.4840_4865delinsGGAGGAGTGAGGCGGGGCGGGGCGGA
NG_033074.1:g.4798_4823delinsTCCGCCCCGCCCCGCCTCACTCCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+28_-64+53delinsGGAGGAGTGAGGCGGGGCGGGGCGGA ENSP00000450887.1:n.-64+28_-64+53delinsGGAGGAGTGAGGCGGGGCGGGG...
ENST00000556009.5:c.147+489_147+514delinsGGAGGAGTGAGGCGGGGCGGGGCGGA
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