Canonical Allele Identifier: CA2573054843
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1323272
ClinVar RCV Id: RCV001783636
dbSNP Id: rs2146022423
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526479del , CM000681.2:g.7526479del GRCh38
NC_000019.9:g.7591365del , CM000681.1:g.7591365del GRCh37
NC_000019.8:g.7497365del NCBI36
NG_015806.1:g.8870del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.278del MANE Select ENSP00000264079.5:p.Phe93SerfsTer?
ENST00000264079.10:c.278del ENSP00000264079.5:p.Phe93SerfsTer?
ENST00000394321.9:n.358del
ENST00000596008.1:n.240del
ENST00000598406.1:n.99del
ENST00000601003.1:c.278del ENSP00000469074.1:p.Phe93SerfsTer?
NM_020533.2:c.278del NP_065394.1:p.Phe93SerfsTer?
NM_020533.3:c.278del MANE Select NP_065394.1:p.Phe93SerfsTer?
Search 100 bp 5'
Search 100 bp 3'