Canonical Allele Identifier: CA2320961052

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524831_7524833delinsCCT , CM000681.2:g.7524831_7524833delinsCCT	GRCh38
NC_000019.9:g.7589717_7589719delinsCCT , CM000681.1:g.7589717_7589719delinsCCT	GRCh37
NC_000019.8:g.7495717_7495719delinsCCT	NCBI36
NG_015806.1:g.7222_7224delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.32-130_32-128delinsCCT MANE Select	ENSP00000264079.5:n.32-130_32-128delinsCCT
ENST00000264079.10:c.32-130_32-128delinsCCT	ENSP00000264079.5:n.32-130_32-128delinsCCT
ENST00000394321.9:n.112-130_112-128delinsCCT
ENST00000596390.1:n.148-130_148-128delinsCCT
ENST00000601003.1:c.32-130_32-128delinsCCT	ENSP00000469074.1:n.32-130_32-128delinsCCT
NM_020533.2:c.32-130_32-128delinsCCT	NP_065394.1:n.32-130_32-128delinsCCT
XR_936293.1:n.122_124delinsAGG
XR_936294.1:n.122_124delinsAGG
XR_936295.1:n.122_124delinsAGG
XR_936293.2:n.148_150delinsAGG
XR_936294.2:n.148_150delinsAGG
NM_020533.3:c.32-130_32-128delinsCCT MANE Select	NP_065394.1:n.32-130_32-128delinsCCT