Canonical Allele Identifier: CA2576597015
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527898-ACCATTAACCT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527902_7527911del , CM000681.2:g.7527902_7527911del GRCh38
NC_000019.9:g.7592788_7592797del , CM000681.1:g.7592788_7592797del GRCh37
NC_000019.8:g.7498788_7498797del NCBI36
NG_015806.1:g.10293_10302del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.719_728del MANE Select ENSP00000264079.5:p.Ile240ArgfsTer17
ENST00000264079.10:c.719_728del ENSP00000264079.5:p.Ile240ArgfsTer17
ENST00000394321.9:n.1034_1043del
NM_020533.2:c.719_728del NP_065394.1:p.Ile240ArgfsTer17
NM_020533.3:c.719_728del MANE Select NP_065394.1:p.Ile240ArgfsTer17
Search 100 bp 5'
Search 100 bp 3'