Canonical Allele Identifier: CA2813464283
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527617_7527618del , CM000681.2:g.7527617_7527618del GRCh38
NC_000019.9:g.7592503_7592504del , CM000681.1:g.7592503_7592504del GRCh37
NC_000019.8:g.7498503_7498504del NCBI36
NG_015806.1:g.10008_10009del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.669_670del MANE Select ENSP00000264079.5:p.Lys224IlefsTer17
ENST00000264079.10:c.669_670del ENSP00000264079.5:p.Lys224IlefsTer17
ENST00000394321.9:n.749_750del
ENST00000598406.1:n.490_491del
ENST00000601003.1:c.572-247_572-246del ENSP00000469074.1:n.572-247_572-246del
NM_020533.2:c.669_670del NP_065394.1:p.Lys224IlefsTer17
NM_020533.3:c.669_670del MANE Select NP_065394.1:p.Lys224IlefsTer17
Search 100 bp 5'
Search 100 bp 3'