Canonical Allele Identifier: CA2587948167

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527271-C-CAAAAAAAGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527278_7527279insGAAAAAAAAA , CM000681.2:g.7527278_7527279insGAAAAAAAAA	GRCh38
NC_000019.9:g.7592164_7592165insGAAAAAAAAA , CM000681.1:g.7592164_7592165insGAAAAAAAAA	GRCh37
NC_000019.8:g.7498164_7498165insGAAAAAAAAA	NCBI36
NG_015806.1:g.9669_9670insGAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-242_572-241insGAAAAAAAAA MANE Select	ENSP00000264079.5:n.572-242_572-241insGAAAAAAAAA
ENST00000264079.10:c.572-242_572-241insGAAAAAAAAA	ENSP00000264079.5:n.572-242_572-241insGAAAAAAAAA
ENST00000394321.9:n.652-242_652-241insGAAAAAAAAA
ENST00000598406.1:n.393-242_393-241insGAAAAAAAAA
ENST00000601003.1:c.571+352_571+353insGAAAAAAAAA	ENSP00000469074.1:n.571+352_571+353insGAAAAAAAAA
NM_020533.2:c.572-242_572-241insGAAAAAAAAA	NP_065394.1:n.572-242_572-241insGAAAAAAAAA
NM_020533.3:c.572-242_572-241insGAAAAAAAAA MANE Select	NP_065394.1:n.572-242_572-241insGAAAAAAAAA