Canonical Allele Identifier: CA2587946780
Gene: MCOLN1 HGNC NCBI

Linked Data

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

HGVS Genome Assembly
NC_000019.10:g.7525165_7525166insCCATTATGTAAAATCCATTGTC , CM000681.2:g.7525165_7525166insCCATTATGTAAAATCCATTGTC GRCh38
NC_000019.9:g.7590051_7590052insCCATTATGTAAAATCCATTGTC , CM000681.1:g.7590051_7590052insCCATTATGTAAAATCCATTGTC GRCh37
NC_000019.8:g.7496051_7496052insCCATTATGTAAAATCCATTGTC NCBI36
NG_015806.1:g.7556_7557insCCATTATGTAAAATCCATTGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.236_237insCCATTATGTAAAATCCATTGTC MANE Select ENSP00000264079.5:p.Gln79HisfsTer16
ENST00000264079.10:c.236_237insCCATTATGTAAAATCCATTGTC ENSP00000264079.5:p.Gln79HisfsTer16
ENST00000394321.9:n.316_317insCCATTATGTAAAATCCATTGTC
ENST00000596390.1:n.352_353insCCATTATGTAAAATCCATTGTC
ENST00000601003.1:c.236_237insCCATTATGTAAAATCCATTGTC ENSP00000469074.1:p.Gln79HisfsTer16
NM_020533.2:c.236_237insCCATTATGTAAAATCCATTGTC NP_065394.1:p.Gln79HisfsTer16
NM_020533.3:c.236_237insCCATTATGTAAAATCCATTGTC MANE Select NP_065394.1:p.Gln79HisfsTer16
Search 100 bp 5'
Search 100 bp 3'