Canonical Allele Identifier: CA2575576683
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v4: 14-74493416-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493421del , CM000676.2:g.74493421del GRCh38
NC_000014.8:g.74960124del , CM000676.1:g.74960124del GRCh37
NC_000014.7:g.74029877del NCBI36
NG_007117.1:g.4965del
NG_033074.1:g.4702del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-63-80del ENSP00000450887.1:n.-63-80del
ENST00000555619.5:c.-143del ENSP00000451112.1:n.-143del
ENST00000556009.5:c.147+614del
NM_001363688.1:c.-143del NP_001350617.1:n.-143del
NM_006432.4:c.-143del NP_006423.1:n.-143del
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