Canonical Allele Identifier: CA2320965547
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533785_7533786delinsTG , CM000681.2:g.7533785_7533786delinsTG GRCh38
NC_000019.9:g.7598671_7598672delinsTG , CM000681.1:g.7598671_7598672delinsTG GRCh37
NC_000019.8:g.7504671_7504672delinsTG NCBI36
NG_013374.1:g.4634_4635delinsTG
NG_015806.1:g.16176_16177delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1733_1734delinsTG MANE Select ENSP00000264079.5:p.Leu578=
ENST00000264079.10:c.1733_1734delinsTG ENSP00000264079.5:p.Leu578=
ENST00000394321.9:n.2048_2049delinsTG
ENST00000599334.1:c.461_462delinsTG
ENST00000601870.1:c.86_87delinsTG
ENST00000602227.1:n.287_288delinsTG
NM_020533.2:c.1733_1734delinsTG NP_065394.1:p.Leu578=
NM_020533.3:c.1733_1734delinsTG MANE Select NP_065394.1:p.Leu578=
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