Canonical Allele Identifier: CA2580097116
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1725915
ClinVar RCV Id: RCV002306886
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527556del , CM000681.2:g.7527556del GRCh38
NC_000019.9:g.7592442del , CM000681.1:g.7592442del GRCh37
NC_000019.8:g.7498442del NCBI36
NG_015806.1:g.9947del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.608del MANE Select ENSP00000264079.5:p.Pro203ArgfsTer?
ENST00000264079.10:c.608del ENSP00000264079.5:p.Pro203ArgfsTer?
ENST00000394321.9:n.688del
ENST00000598406.1:n.429del
ENST00000601003.1:c.572-308del ENSP00000469074.1:n.572-308del
NM_020533.2:c.608del NP_065394.1:p.Pro203ArgfsTer?
NM_020533.3:c.608del MANE Select NP_065394.1:p.Pro203ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'