Canonical Allele Identifier: CA2587948163

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527271-C-CAAAAAAAAGAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527279_7527280insGAAAAAAAAAAAAAAAAAAAA , CM000681.2:g.7527279_7527280insGAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000019.9:g.7592165_7592166insGAAAAAAAAAAAAAAAAAAAA , CM000681.1:g.7592165_7592166insGAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000019.8:g.7498165_7498166insGAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_015806.1:g.9670_9671insGAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-241_572-240insGAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000264079.5:n.572-241_572-240insGAAAAAAAAAAAAAAAAAAAA
ENST00000264079.10:c.572-241_572-240insGAAAAAAAAAAAAAAAAAAAA	ENSP00000264079.5:n.572-241_572-240insGAAAAAAAAAAAAAAAAAAAA
ENST00000394321.9:n.652-241_652-240insGAAAAAAAAAAAAAAAAAAAA
ENST00000598406.1:n.393-241_393-240insGAAAAAAAAAAAAAAAAAAAA
ENST00000601003.1:c.571+353_571+354insGAAAAAAAAAAAAAAAAAAAA	ENSP00000469074.1:n.571+353_571+354insGAAAAAAAAAAAAAAAAAAAA
NM_020533.2:c.572-241_572-240insGAAAAAAAAAAAAAAAAAAAA	NP_065394.1:n.572-241_572-240insGAAAAAAAAAAAAAAAAAAAA
NM_020533.3:c.572-241_572-240insGAAAAAAAAAAAAAAAAAAAA MANE Select	NP_065394.1:n.572-241_572-240insGAAAAAAAAAAAAAAAAAAAA