Canonical Allele Identifier: CA304858449
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs889340616
MyVariant Identifiers: chr19:g.7598761del (hg19) chr19:g.7533875del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533877del , CM000681.2:g.7533877del GRCh38
NC_000019.9:g.7598763del , CM000681.1:g.7598763del GRCh37
NC_000019.8:g.7504763del NCBI36
NG_013374.1:g.4726del
NG_015806.1:g.16268del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*82del MANE Select ENSP00000264079.5:n.*82del
ENST00000264079.10:c.*82del ENSP00000264079.5:n.*82del
ENST00000394321.9:n.2140del
ENST00000599334.1:c.553del
ENST00000601870.1:c.169+9del
ENST00000602227.1:n.379del
NM_020533.2:c.*82del NP_065394.1:n.*82del
NM_020533.3:c.*82del MANE Select NP_065394.1:n.*82del
Search 100 bp 5'
Search 100 bp 3'