Canonical Allele Identifier: CA2587946779
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7525165-A-ACCATTATGTAAAATCCATT
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525165_7525166insCCATTATGTAAAATCCATT , CM000681.2:g.7525165_7525166insCCATTATGTAAAATCCATT GRCh38
NC_000019.9:g.7590051_7590052insCCATTATGTAAAATCCATT , CM000681.1:g.7590051_7590052insCCATTATGTAAAATCCATT GRCh37
NC_000019.8:g.7496051_7496052insCCATTATGTAAAATCCATT NCBI36
NG_015806.1:g.7556_7557insCCATTATGTAAAATCCATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.236_237insCCATTATGTAAAATCCATT MANE Select ENSP00000264079.5:p.Gln79HisfsTer15
ENST00000264079.10:c.236_237insCCATTATGTAAAATCCATT ENSP00000264079.5:p.Gln79HisfsTer15
ENST00000394321.9:n.316_317insCCATTATGTAAAATCCATT
ENST00000596390.1:n.352_353insCCATTATGTAAAATCCATT
ENST00000601003.1:c.236_237insCCATTATGTAAAATCCATT ENSP00000469074.1:p.Gln79HisfsTer15
NM_020533.2:c.236_237insCCATTATGTAAAATCCATT NP_065394.1:p.Gln79HisfsTer15
NM_020533.3:c.236_237insCCATTATGTAAAATCCATT MANE Select NP_065394.1:p.Gln79HisfsTer15
Search 100 bp 5'
Search 100 bp 3'