Canonical Allele Identifier: CA2557005390
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533855_7533856insG , CM000681.2:g.7533855_7533856insG GRCh38
NC_000019.9:g.7598741_7598742insG , CM000681.1:g.7598741_7598742insG GRCh37
NC_000019.8:g.7504741_7504742insG NCBI36
NG_013374.1:g.4704_4705insG
NG_015806.1:g.16246_16247insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*60_*61insG MANE Select ENSP00000264079.5:n.*60_*61insG
ENST00000264079.10:c.*60_*61insG ENSP00000264079.5:n.*60_*61insG
ENST00000394321.9:n.2118_2119insG
ENST00000599334.1:c.531_532insG
ENST00000601870.1:c.156_157insG
ENST00000602227.1:n.357_358insG
NM_020533.2:c.*60_*61insG NP_065394.1:n.*60_*61insG
NM_020533.3:c.*60_*61insG MANE Select NP_065394.1:n.*60_*61insG