Canonical Allele Identifier: CA2587948181

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527279-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527280_7527281insGA , CM000681.2:g.7527280_7527281insGA	GRCh38
NC_000019.9:g.7592166_7592167insGA , CM000681.1:g.7592166_7592167insGA	GRCh37
NC_000019.8:g.7498166_7498167insGA	NCBI36
NG_015806.1:g.9671_9672insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-240_572-239insGA MANE Select	ENSP00000264079.5:n.572-240_572-239insGA
ENST00000264079.10:c.572-240_572-239insGA	ENSP00000264079.5:n.572-240_572-239insGA
ENST00000394321.9:n.652-240_652-239insGA
ENST00000598406.1:n.393-240_393-239insGA
ENST00000601003.1:c.571+354_571+355insGA	ENSP00000469074.1:n.571+354_571+355insGA
NM_020533.2:c.572-240_572-239insGA	NP_065394.1:n.572-240_572-239insGA
NM_020533.3:c.572-240_572-239insGA MANE Select	NP_065394.1:n.572-240_572-239insGA