Canonical Allele Identifier: CA2695228070
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525155del , CM000681.2:g.7525155del GRCh38
NC_000019.9:g.7590041del , CM000681.1:g.7590041del GRCh37
NC_000019.8:g.7496041del NCBI36
NG_015806.1:g.7546del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.226del MANE Select ENSP00000264079.5:p.Val76SerfsTer16
ENST00000264079.10:c.226del ENSP00000264079.5:p.Val76SerfsTer16
ENST00000394321.9:n.306del
ENST00000596390.1:n.342del
ENST00000601003.1:c.226del ENSP00000469074.1:p.Val76SerfsTer16
NM_020533.2:c.226del NP_065394.1:p.Val76SerfsTer16
NM_020533.3:c.226del MANE Select NP_065394.1:p.Val76SerfsTer16
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