Canonical Allele Identifier: CA2587948284

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527446-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527448_7527449del , CM000681.2:g.7527448_7527449del	GRCh38
NC_000019.9:g.7592334_7592335del , CM000681.1:g.7592334_7592335del	GRCh37
NC_000019.8:g.7498334_7498335del	NCBI36
NG_015806.1:g.9839_9840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-72_572-71del MANE Select	ENSP00000264079.5:n.572-72_572-71del
ENST00000264079.10:c.572-72_572-71del	ENSP00000264079.5:n.572-72_572-71del
ENST00000394321.9:n.652-72_652-71del
ENST00000598406.1:n.393-72_393-71del
ENST00000601003.1:c.572-416_572-415del	ENSP00000469074.1:n.572-416_572-415del
NM_020533.2:c.572-72_572-71del	NP_065394.1:n.572-72_572-71del
NM_020533.3:c.572-72_572-71del MANE Select	NP_065394.1:n.572-72_572-71del