Canonical Allele Identifier: CA2576596978

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527548-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527553del , CM000681.2:g.7527553del	GRCh38
NC_000019.9:g.7592439del , CM000681.1:g.7592439del	GRCh37
NC_000019.8:g.7498439del	NCBI36
NG_015806.1:g.9944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.605del MANE Select	ENSP00000264079.5:p.Pro202LeufsTer?
ENST00000264079.10:c.605del	ENSP00000264079.5:p.Pro202LeufsTer?
ENST00000394321.9:n.685del
ENST00000598406.1:n.426del
ENST00000601003.1:c.572-311del	ENSP00000469074.1:n.572-311del
NM_020533.2:c.605del	NP_065394.1:p.Pro202LeufsTer?
NM_020533.3:c.605del MANE Select	NP_065394.1:p.Pro202LeufsTer?