Canonical Allele Identifier: CA2587946756
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524913del , CM000681.2:g.7524913del GRCh38
NC_000019.9:g.7589799del , CM000681.1:g.7589799del GRCh37
NC_000019.8:g.7495799del NCBI36
NG_015806.1:g.7304del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.32-48del MANE Select ENSP00000264079.5:n.32-48del
ENST00000264079.10:c.32-48del ENSP00000264079.5:n.32-48del
ENST00000394321.9:n.112-48del
ENST00000596390.1:n.148-48del
ENST00000601003.1:c.32-48del ENSP00000469074.1:n.32-48del
NM_020533.2:c.32-48del NP_065394.1:n.32-48del
XR_936293.1:n.45del
XR_936294.1:n.45del
XR_936295.1:n.45del
XR_936293.2:n.71del
XR_936294.2:n.71del
NM_020533.3:c.32-48del MANE Select NP_065394.1:n.32-48del