Canonical Allele Identifier: CA2813476164

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533954del , CM000681.2:g.7533954del	GRCh38
NC_000019.9:g.7598840del , CM000681.1:g.7598840del	GRCh37
NC_000019.8:g.7504840del	NCBI36
NG_013374.1:g.4803del
NG_015806.1:g.16345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*159del MANE Select	ENSP00000264079.5:n.*159del
ENST00000264079.10:c.*159del	ENSP00000264079.5:n.*159del
ENST00000394321.9:n.2217del
ENST00000599334.1:c.630del
ENST00000601870.1:c.169+86del
ENST00000602227.1:n.456del
NM_020533.2:c.*159del	NP_065394.1:n.*159del
NM_020533.3:c.*159del MANE Select	NP_065394.1:n.*159del