Canonical Allele Identifier: CA2587947985

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527062-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527064del , CM000681.2:g.7527064del	GRCh38
NC_000019.9:g.7591950del , CM000681.1:g.7591950del	GRCh37
NC_000019.8:g.7497950del	NCBI36
NG_015806.1:g.9455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.571+138del MANE Select	ENSP00000264079.5:n.571+138del
ENST00000264079.10:c.571+138del	ENSP00000264079.5:n.571+138del
ENST00000394321.9:n.651+138del
ENST00000596008.1:n.671del
ENST00000598406.1:n.392+138del
ENST00000601003.1:c.571+138del	ENSP00000469074.1:n.571+138del
NM_020533.2:c.571+138del	NP_065394.1:n.571+138del
NM_020533.3:c.571+138del MANE Select	NP_065394.1:n.571+138del