Canonical Allele Identifier: CA2147070163
Gene: NPC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493590_74493591delinsGT , CM000676.2:g.74493590_74493591delinsGT GRCh38
NC_000014.8:g.74960293_74960294delinsGT , CM000676.1:g.74960293_74960294delinsGT GRCh37
NC_000014.7:g.74030046_74030047delinsGT NCBI36
NG_007117.1:g.4791_4792delinsAC
NG_033074.1:g.4871_4872delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-85_-84delinsAC ENSP00000450887.1:n.-85_-84delinsAC
ENST00000556009.5:c.147+440_147+441delinsAC