Canonical Allele Identifier: CA2587948360
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527647-AGG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527652_7527653del , CM000681.2:g.7527652_7527653del GRCh38
NC_000019.9:g.7592538_7592539del , CM000681.1:g.7592538_7592539del GRCh37
NC_000019.8:g.7498538_7498539del NCBI36
NG_015806.1:g.10043_10044del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.680+24_680+25del MANE Select ENSP00000264079.5:n.680+24_680+25del
ENST00000264079.10:c.680+24_680+25del ENSP00000264079.5:n.680+24_680+25del
ENST00000394321.9:n.784_785del
ENST00000598406.1:n.525_526del
ENST00000601003.1:c.572-212_572-211del ENSP00000469074.1:n.572-212_572-211del
NM_020533.2:c.680+24_680+25del NP_065394.1:n.680+24_680+25del
NM_020533.3:c.680+24_680+25del MANE Select NP_065394.1:n.680+24_680+25del
Search 100 bp 5'
Search 100 bp 3'