Canonical Allele Identifier: CA2587948152

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527269-CTCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527270_7527272del , CM000681.2:g.7527270_7527272del	GRCh38
NC_000019.9:g.7592156_7592158del , CM000681.1:g.7592156_7592158del	GRCh37
NC_000019.8:g.7498156_7498158del	NCBI36
NG_015806.1:g.9661_9663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-250_572-248del MANE Select	ENSP00000264079.5:n.572-250_572-248del
ENST00000264079.10:c.572-250_572-248del	ENSP00000264079.5:n.572-250_572-248del
ENST00000394321.9:n.652-250_652-248del
ENST00000598406.1:n.393-250_393-248del
ENST00000601003.1:c.571+344_571+346del	ENSP00000469074.1:n.571+344_571+346del
NM_020533.2:c.572-250_572-248del	NP_065394.1:n.572-250_572-248del
NM_020533.3:c.572-250_572-248del MANE Select	NP_065394.1:n.572-250_572-248del