Canonical Allele Identifier: CA2587949922
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529777del , CM000681.2:g.7529777del GRCh38
NC_000019.9:g.7594663del , CM000681.1:g.7594663del GRCh37
NC_000019.8:g.7500663del NCBI36
NG_013374.1:g.626del
NG_015806.1:g.12168del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1359+65del MANE Select ENSP00000264079.5:n.1359+65del
ENST00000264079.10:c.1359+65del ENSP00000264079.5:n.1359+65del
ENST00000394321.9:n.1674+65del
ENST00000594692.1:n.355+65del
ENST00000595860.5:n.542+65del
ENST00000599334.1:c.236+65del
NM_020533.2:c.1359+65del NP_065394.1:n.1359+65del
NM_020533.3:c.1359+65del MANE Select NP_065394.1:n.1359+65del