Canonical Allele Identifier: CA2625667429
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v4: 14-74493517-TCCGCC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493528_74493532del , CM000676.2:g.74493528_74493532del GRCh38
NC_000014.8:g.74960231_74960235del , CM000676.1:g.74960231_74960235del GRCh37
NC_000014.7:g.74029984_74029988del NCBI36
NG_007117.1:g.4860_4864del
NG_033074.1:g.4809_4813del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+48_-64+52del ENSP00000450887.1:n.-64+48_-64+52del
ENST00000556009.5:c.147+509_147+513del
Search 100 bp 5'
Search 100 bp 3'