Canonical Allele Identifier: CA2320962288
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022587325
gnomAD v4: 19-7527389-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527394_7527395del , CM000681.2:g.7527394_7527395del GRCh38
NC_000019.9:g.7592280_7592281del , CM000681.1:g.7592280_7592281del GRCh37
NC_000019.8:g.7498280_7498281del NCBI36
NG_015806.1:g.9785_9786del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-126_572-125del MANE Select ENSP00000264079.5:n.572-126_572-125del
ENST00000264079.10:c.572-126_572-125del ENSP00000264079.5:n.572-126_572-125del
ENST00000394321.9:n.652-126_652-125del
ENST00000598406.1:n.393-126_393-125del
ENST00000601003.1:c.571+468_572-469del ENSP00000469074.1:n.571+468_572-469del
NM_020533.2:c.572-126_572-125del NP_065394.1:n.572-126_572-125del
NM_020533.3:c.572-126_572-125del MANE Select NP_065394.1:n.572-126_572-125del
Search 100 bp 5'
Search 100 bp 3'