Canonical Allele Identifier: CA2573320602
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528656_7528658del , CM000681.2:g.7528656_7528658del GRCh38
NC_000019.9:g.7593542_7593544del , CM000681.1:g.7593542_7593544del GRCh37
NC_000019.8:g.7499542_7499544del NCBI36
NG_015806.1:g.11047_11049del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.937_939del MANE Select ENSP00000264079.5:p.Phe313del
ENST00000264079.10:c.937_939del ENSP00000264079.5:p.Phe313del
ENST00000394321.9:n.1252_1254del
ENST00000595860.5:n.3_5del
NM_020533.2:c.937_939del NP_065394.1:p.Phe313del
NM_020533.3:c.937_939del MANE Select NP_065394.1:p.Phe313del
Search 100 bp 5'
Search 100 bp 3'