Canonical Allele Identifier: CA2587948494
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527876-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527877del , CM000681.2:g.7527877del GRCh38
NC_000019.9:g.7592763del , CM000681.1:g.7592763del GRCh37
NC_000019.8:g.7498763del NCBI36
NG_015806.1:g.10268del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.694del MANE Select ENSP00000264079.5:p.Thr232ProfsTer6
ENST00000264079.10:c.694del ENSP00000264079.5:p.Thr232ProfsTer6
ENST00000394321.9:n.1009del
ENST00000601003.1:c.585del ENSP00000469074.1:p.Pro196HisfsTer?
NM_020533.2:c.694del NP_065394.1:p.Thr232ProfsTer6
NM_020533.3:c.694del MANE Select NP_065394.1:p.Thr232ProfsTer6
Search 100 bp 5'
Search 100 bp 3'