Canonical Allele Identifier: CA2587947882

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7526666-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526668del , CM000681.2:g.7526668del	GRCh38
NC_000019.9:g.7591554del , CM000681.1:g.7591554del	GRCh37
NC_000019.8:g.7497554del	NCBI36
NG_015806.1:g.9059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.405+62del MANE Select	ENSP00000264079.5:n.405+62del
ENST00000264079.10:c.405+62del	ENSP00000264079.5:n.405+62del
ENST00000394321.9:n.485+62del
ENST00000596008.1:n.367+62del
ENST00000598406.1:n.226+62del
ENST00000601003.1:c.405+62del	ENSP00000469074.1:n.405+62del
NM_020533.2:c.405+62del	NP_065394.1:n.405+62del
NM_020533.3:c.405+62del MANE Select	NP_065394.1:n.405+62del