Canonical Allele Identifier: CA2573155888
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1414260
ClinVar RCV Id: RCV001928601
dbSNP Id: rs2146021332
gnomAD v4: 19-7525093-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525094del , CM000681.2:g.7525094del GRCh38
NC_000019.9:g.7589980del , CM000681.1:g.7589980del GRCh37
NC_000019.8:g.7495980del NCBI36
NG_015806.1:g.7485del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.165del MANE Select ENSP00000264079.5:p.Lys55AsnfsTer12
ENST00000264079.10:c.165del ENSP00000264079.5:p.Lys55AsnfsTer12
ENST00000394321.9:n.245del
ENST00000596390.1:n.281del
ENST00000601003.1:c.165del ENSP00000469074.1:p.Lys55AsnfsTer12
NM_020533.2:c.165del NP_065394.1:p.Lys55AsnfsTer12
NM_020533.3:c.165del MANE Select NP_065394.1:p.Lys55AsnfsTer12
Search 100 bp 5'
Search 100 bp 3'