Canonical Allele Identifier: CA2499225627
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1072781
ClinVar RCV Id: RCV001385590
dbSNP Id: rs2146023956
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527907del , CM000681.2:g.7527907del GRCh38
NC_000019.9:g.7592793del , CM000681.1:g.7592793del GRCh37
NC_000019.8:g.7498793del NCBI36
NG_015806.1:g.10298del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.724del MANE Select ENSP00000264079.5:p.Leu242SerfsTer18
ENST00000264079.10:c.724del ENSP00000264079.5:p.Leu242SerfsTer18
ENST00000394321.9:n.1039del
NM_020533.2:c.724del NP_065394.1:p.Leu242SerfsTer18
NM_020533.3:c.724del MANE Select NP_065394.1:p.Leu242SerfsTer18
Search 100 bp 5'
Search 100 bp 3'