Canonical Allele Identifier: CA2587948218

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527298-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527299_7527300del , CM000681.2:g.7527299_7527300del	GRCh38
NC_000019.9:g.7592185_7592186del , CM000681.1:g.7592185_7592186del	GRCh37
NC_000019.8:g.7498185_7498186del	NCBI36
NG_015806.1:g.9690_9691del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-221_572-220del MANE Select	ENSP00000264079.5:n.572-221_572-220del
ENST00000264079.10:c.572-221_572-220del	ENSP00000264079.5:n.572-221_572-220del
ENST00000394321.9:n.652-221_652-220del
ENST00000598406.1:n.393-221_393-220del
ENST00000601003.1:c.571+373_571+374del	ENSP00000469074.1:n.571+373_571+374del
NM_020533.2:c.572-221_572-220del	NP_065394.1:n.572-221_572-220del
NM_020533.3:c.572-221_572-220del MANE Select	NP_065394.1:n.572-221_572-220del