Canonical Allele Identifier: CA2587947869
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7526637-AGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526654_7526707del , CM000681.2:g.7526654_7526707del GRCh38
NC_000019.9:g.7591540_7591593del , CM000681.1:g.7591540_7591593del GRCh37
NC_000019.8:g.7497540_7497593del NCBI36
NG_015806.1:g.9045_9098del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.405+48_406-54del MANE Select ENSP00000264079.5:n.405+48_406-54del
ENST00000264079.10:c.405+48_406-54del ENSP00000264079.5:n.405+48_406-54del
ENST00000394321.9:n.485+48_486-54del
ENST00000596008.1:n.367+48_368-54del
ENST00000598406.1:n.226+48_227-54del
ENST00000601003.1:c.405+48_406-54del ENSP00000469074.1:n.405+48_406-54del
NM_020533.2:c.405+48_406-54del NP_065394.1:n.405+48_406-54del
NM_020533.3:c.405+48_406-54del MANE Select NP_065394.1:n.405+48_406-54del
Search 100 bp 5'
Search 100 bp 3'