Canonical Allele Identifier: CA263573334
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs899121405
gnomAD v2: 14-74960220-TCCGCCCCGCCCCGCCTCACTCCTCC-T
gnomAD v3: 14-74493517-TCCGCCCCGCCCCGCCTCACTCCTCC-T
gnomAD v4: 14-74493517-TCCGCCCCGCCCCGCCTCACTCCTCC-T
MyVariant Identifiers: chr14:g.74960221_74960245del (hg19) chr14:g.74493518_74493542del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493526_74493550del , CM000676.2:g.74493526_74493550del GRCh38
NC_000014.8:g.74960229_74960253del , CM000676.1:g.74960229_74960253del GRCh37
NC_000014.7:g.74029982_74030006del NCBI36
NG_007117.1:g.4840_4864del
NG_033074.1:g.4807_4831del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+28_-64+52del ENSP00000450887.1:n.-64+28_-64+52del
ENST00000556009.5:c.147+489_147+513del
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