Canonical Allele Identifier: CA2555874366

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533654_7533655del , CM000681.2:g.7533654_7533655del	GRCh38
NC_000019.9:g.7598540_7598541del , CM000681.1:g.7598540_7598541del	GRCh37
NC_000019.8:g.7504540_7504541del	NCBI36
NG_013374.1:g.4503_4504del
NG_015806.1:g.16045_16046del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1706+1_1706+2del MANE Select	ENSP00000264079.5:n.1706+1_1706+2del
ENST00000264079.10:c.1706+1_1706+2del	ENSP00000264079.5:n.1706+1_1706+2del
ENST00000394321.9:n.2021+1_2021+2del
ENST00000599334.1:c.434+1_434+2del
ENST00000601870.1:c.59+1_59+2del
ENST00000602227.1:n.260+1_260+2del
NM_020533.2:c.1706+1_1706+2del	NP_065394.1:n.1706+1_1706+2del
NM_020533.3:c.1706+1_1706+2del MANE Select	NP_065394.1:n.1706+1_1706+2del