Canonical Allele Identifier: CA2576597209

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533818del , CM000681.2:g.7533818del	GRCh38
NC_000019.9:g.7598704del , CM000681.1:g.7598704del	GRCh37
NC_000019.8:g.7504704del	NCBI36
NG_013374.1:g.4667del
NG_015806.1:g.16209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*23del MANE Select	ENSP00000264079.5:n.*23del
ENST00000264079.10:c.*23del	ENSP00000264079.5:n.*23del
ENST00000394321.9:n.2081del
ENST00000599334.1:c.494del
ENST00000601870.1:c.119del
ENST00000602227.1:n.320del
NM_020533.2:c.*23del	NP_065394.1:n.*23del
NM_020533.3:c.*23del MANE Select	NP_065394.1:n.*23del