Canonical Allele Identifier: CA2739276427
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2811644
ClinVar RCV Id: RCV003613618
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530341_7530345del , CM000681.2:g.7530341_7530345del GRCh38
NC_000019.9:g.7595227_7595231del , CM000681.1:g.7595227_7595231del GRCh37
NC_000019.8:g.7501227_7501231del NCBI36
NG_013374.1:g.1190_1194del
NG_015806.1:g.12732_12736del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1415_1419del MANE Select ENSP00000264079.5:p.Asp472ValfsTer?
ENST00000264079.10:c.1415_1419del ENSP00000264079.5:p.Asp472ValfsTer?
ENST00000394321.9:n.1730_1734del
ENST00000594692.1:n.411_415del
ENST00000595860.5:n.598_602del
ENST00000599334.1:c.237-94_237-90del
NM_020533.2:c.1415_1419del NP_065394.1:p.Asp472ValfsTer?
NM_020533.3:c.1415_1419del MANE Select NP_065394.1:p.Asp472ValfsTer?
Search 100 bp 5'
Search 100 bp 3'