Canonical Allele Identifier: CA2587948164

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527271-C-CTAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527271_7527272insTAAA , CM000681.2:g.7527271_7527272insTAAA	GRCh38
NC_000019.9:g.7592157_7592158insTAAA , CM000681.1:g.7592157_7592158insTAAA	GRCh37
NC_000019.8:g.7498157_7498158insTAAA	NCBI36
NG_015806.1:g.9662_9663insTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-249_572-248insTAAA MANE Select	ENSP00000264079.5:n.572-249_572-248insTAAA
ENST00000264079.10:c.572-249_572-248insTAAA	ENSP00000264079.5:n.572-249_572-248insTAAA
ENST00000394321.9:n.652-249_652-248insTAAA
ENST00000598406.1:n.393-249_393-248insTAAA
ENST00000601003.1:c.571+345_571+346insTAAA	ENSP00000469074.1:n.571+345_571+346insTAAA
NM_020533.2:c.572-249_572-248insTAAA	NP_065394.1:n.572-249_572-248insTAAA
NM_020533.3:c.572-249_572-248insTAAA MANE Select	NP_065394.1:n.572-249_572-248insTAAA