Canonical Allele Identifier: CA2587949400
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7530142-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530144del , CM000681.2:g.7530144del GRCh38
NC_000019.9:g.7595030del , CM000681.1:g.7595030del GRCh37
NC_000019.8:g.7501030del NCBI36
NG_013374.1:g.993del
NG_015806.1:g.12535del

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1360-142del MANE Select ENSP00000264079.5:n.1360-142del
ENST00000264079.10:c.1360-142del ENSP00000264079.5:n.1360-142del
ENST00000394321.9:n.1675-142del
ENST00000594692.1:n.356-142del
ENST00000595860.5:n.543-142del
ENST00000599334.1:c.237-291del
NM_020533.2:c.1360-142del NP_065394.1:n.1360-142del
NM_020533.3:c.1360-142del MANE Select NP_065394.1:n.1360-142del
Search 100 bp 5'
Search 100 bp 3'