Canonical Allele Identifier: CA2576597110
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7529809-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529811del , CM000681.2:g.7529811del GRCh38
NC_000019.9:g.7594697del , CM000681.1:g.7594697del GRCh37
NC_000019.8:g.7500697del NCBI36
NG_013374.1:g.660del
NG_015806.1:g.12202del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1359+99del MANE Select ENSP00000264079.5:n.1359+99del
ENST00000264079.10:c.1359+99del ENSP00000264079.5:n.1359+99del
ENST00000394321.9:n.1674+99del
ENST00000594692.1:n.355+99del
ENST00000595860.5:n.542+99del
ENST00000599334.1:c.236+99del
NM_020533.2:c.1359+99del NP_065394.1:n.1359+99del
NM_020533.3:c.1359+99del MANE Select NP_065394.1:n.1359+99del
Search 100 bp 5'
Search 100 bp 3'