Canonical Allele Identifier: CA2576596966
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527484-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527489del , CM000681.2:g.7527489del GRCh38
NC_000019.9:g.7592375del , CM000681.1:g.7592375del GRCh37
NC_000019.8:g.7498375del NCBI36
NG_015806.1:g.9880del

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.572-31del MANE Select ENSP00000264079.5:n.572-31del
ENST00000264079.10:c.572-31del ENSP00000264079.5:n.572-31del
ENST00000394321.9:n.652-31del
ENST00000598406.1:n.393-31del
ENST00000601003.1:c.572-375del ENSP00000469074.1:n.572-375del
NM_020533.2:c.572-31del NP_065394.1:n.572-31del
NM_020533.3:c.572-31del MANE Select NP_065394.1:n.572-31del
Search 100 bp 5'
Search 100 bp 3'