Canonical Allele Identifier: CA2587948495
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527887-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527889del , CM000681.2:g.7527889del GRCh38
NC_000019.9:g.7592775del , CM000681.1:g.7592775del GRCh37
NC_000019.8:g.7498775del NCBI36
NG_015806.1:g.10280del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.706del MANE Select ENSP00000264079.5:p.Arg236GlyfsTer2
ENST00000264079.10:c.706del ENSP00000264079.5:p.Arg236GlyfsTer2
ENST00000394321.9:n.1021del
ENST00000601003.1:c.597del ENSP00000469074.1:p.Gly200AlafsTer?
NM_020533.2:c.706del NP_065394.1:p.Arg236GlyfsTer2
NM_020533.3:c.706del MANE Select NP_065394.1:p.Arg236GlyfsTer2
Search 100 bp 5'
Search 100 bp 3'