Canonical Allele Identifier: CA2576596954

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527442_7527443del , CM000681.2:g.7527442_7527443del	GRCh38
NC_000019.9:g.7592328_7592329del , CM000681.1:g.7592328_7592329del	GRCh37
NC_000019.8:g.7498328_7498329del	NCBI36
NG_015806.1:g.9833_9834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-78_572-77del MANE Select	ENSP00000264079.5:n.572-78_572-77del
ENST00000264079.10:c.572-78_572-77del	ENSP00000264079.5:n.572-78_572-77del
ENST00000394321.9:n.652-78_652-77del
ENST00000598406.1:n.393-78_393-77del
ENST00000601003.1:c.572-422_572-421del	ENSP00000469074.1:n.572-422_572-421del
NM_020533.2:c.572-78_572-77del	NP_065394.1:n.572-78_572-77del
NM_020533.3:c.572-78_572-77del MANE Select	NP_065394.1:n.572-78_572-77del