Canonical Allele Identifier: CA2587948135

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527241-CACCCTGGGTGACAGAGTGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527248_7527267del , CM000681.2:g.7527248_7527267del	GRCh38
NC_000019.9:g.7592134_7592153del , CM000681.1:g.7592134_7592153del	GRCh37
NC_000019.8:g.7498134_7498153del	NCBI36
NG_015806.1:g.9639_9658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-272_572-253del MANE Select	ENSP00000264079.5:n.572-272_572-253del
ENST00000264079.10:c.572-272_572-253del	ENSP00000264079.5:n.572-272_572-253del
ENST00000394321.9:n.652-272_652-253del
ENST00000598406.1:n.393-272_393-253del
ENST00000601003.1:c.571+322_571+341del	ENSP00000469074.1:n.571+322_571+341del
NM_020533.2:c.572-272_572-253del	NP_065394.1:n.572-272_572-253del
NM_020533.3:c.572-272_572-253del MANE Select	NP_065394.1:n.572-272_572-253del