Canonical Allele Identifier: CA2320961194
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022547761
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525024del , CM000681.2:g.7525024del GRCh38
NC_000019.9:g.7589910del , CM000681.1:g.7589910del GRCh37
NC_000019.8:g.7495910del NCBI36
NG_015806.1:g.7415del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.95del MANE Select ENSP00000264079.5:p.Pro32LeufsTer19
ENST00000264079.10:c.95del ENSP00000264079.5:p.Pro32LeufsTer19
ENST00000394321.9:n.175del
ENST00000596390.1:n.211del
ENST00000601003.1:c.95del ENSP00000469074.1:p.Pro32LeufsTer19
NM_020533.2:c.95del NP_065394.1:p.Pro32LeufsTer19
NM_020533.3:c.95del MANE Select NP_065394.1:p.Pro32LeufsTer19
Search 100 bp 5'
Search 100 bp 3'