Canonical Allele Identifier: CA2576597076
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528345del , CM000681.2:g.7528345del GRCh38
NC_000019.9:g.7593231del , CM000681.1:g.7593231del GRCh37
NC_000019.8:g.7499231del NCBI36
NG_015806.1:g.10736del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+88del MANE Select ENSP00000264079.5:n.877+88del
ENST00000264079.10:c.877+88del ENSP00000264079.5:n.877+88del
ENST00000394321.9:n.1192+88del
NM_020533.2:c.877+88del NP_065394.1:n.877+88del
NM_020533.3:c.877+88del MANE Select NP_065394.1:n.877+88del