Canonical Allele Identifier: CA2587948598
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528290-AGGGGCCCTGGCCTGTCCTGGGATTCCCCAAGCCCCAGATCAGCGCTGCCTG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528297_7528347del , CM000681.2:g.7528297_7528347del GRCh38
NC_000019.9:g.7593183_7593233del , CM000681.1:g.7593183_7593233del GRCh37
NC_000019.8:g.7499183_7499233del NCBI36
NG_015806.1:g.10688_10738del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+40_877+90del MANE Select ENSP00000264079.5:n.877+40_877+90del
ENST00000264079.10:c.877+40_877+90del ENSP00000264079.5:n.877+40_877+90del
ENST00000394321.9:n.1192+40_1192+90del
NM_020533.2:c.877+40_877+90del NP_065394.1:n.877+40_877+90del
NM_020533.3:c.877+40_877+90del MANE Select NP_065394.1:n.877+40_877+90del
Search 100 bp 5'
Search 100 bp 3'