Canonical Allele Identifier: CA2587948317

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527483-GGCCCCCTGAGGCCCTTCCCTGACTCCCTGTCCTTAGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527490_7527562del , CM000681.2:g.7527490_7527562del	GRCh38
NC_000019.9:g.7592376_7592448del , CM000681.1:g.7592376_7592448del	GRCh37
NC_000019.8:g.7498376_7498448del	NCBI36
NG_015806.1:g.9881_9953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-30_614del
ENST00000264079.10:c.572-30_614del
ENST00000394321.9:n.652-30_694del
ENST00000598406.1:n.393-30_435del
ENST00000601003.1:c.572-374_572-302del	ENSP00000469074.1:n.572-374_572-302del
NM_020533.2:c.572-30_614del
NM_020533.3:c.572-30_614del