Canonical Allele Identifier: CA2587948873
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7529113-TACG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529117_7529119del , CM000681.2:g.7529117_7529119del GRCh38
NC_000019.9:g.7594003_7594005del , CM000681.1:g.7594003_7594005del GRCh37
NC_000019.8:g.7500003_7500005del NCBI36
NG_015806.1:g.11508_11510del

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1151_1153del MANE Select ENSP00000264079.5:p.Asp384del
ENST00000264079.10:c.1151_1153del ENSP00000264079.5:p.Asp384del
ENST00000394321.9:n.1466_1468del
ENST00000594692.1:n.147_149del
ENST00000595860.5:n.334_336del
ENST00000599334.1:c.28_30del
NM_020533.2:c.1151_1153del NP_065394.1:p.Asp384del
NM_020533.3:c.1151_1153del MANE Select NP_065394.1:p.Asp384del
Search 100 bp 5'
Search 100 bp 3'