Canonical Allele Identifier: CA2587948587
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528277-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528279del , CM000681.2:g.7528279del GRCh38
NC_000019.9:g.7593165del , CM000681.1:g.7593165del GRCh37
NC_000019.8:g.7499165del NCBI36
NG_015806.1:g.10670del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+22del MANE Select ENSP00000264079.5:n.877+22del
ENST00000264079.10:c.877+22del ENSP00000264079.5:n.877+22del
ENST00000394321.9:n.1192+22del
NM_020533.2:c.877+22del NP_065394.1:n.877+22del
NM_020533.3:c.877+22del MANE Select NP_065394.1:n.877+22del
Search 100 bp 5'
Search 100 bp 3'