Canonical Allele Identifier: CA2587948509
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528004_7528008del , CM000681.2:g.7528004_7528008del GRCh38
NC_000019.9:g.7592890_7592894del , CM000681.1:g.7592890_7592894del GRCh37
NC_000019.8:g.7498890_7498894del NCBI36
NG_015806.1:g.10395_10399del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.777+44_777+48del MANE Select ENSP00000264079.5:n.777+44_777+48del
ENST00000264079.10:c.777+44_777+48del ENSP00000264079.5:n.777+44_777+48del
ENST00000394321.9:n.1092+44_1092+48del
NM_020533.2:c.777+44_777+48del NP_065394.1:n.777+44_777+48del
NM_020533.3:c.777+44_777+48del MANE Select NP_065394.1:n.777+44_777+48del