Canonical Allele Identifier: CA2320965481
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533653_7533657delinsGGTTC , CM000681.2:g.7533653_7533657delinsGGTTC GRCh38
NC_000019.9:g.7598539_7598543delinsGGTTC , CM000681.1:g.7598539_7598543delinsGGTTC GRCh37
NC_000019.8:g.7504539_7504543delinsGGTTC NCBI36
NG_013374.1:g.4502_4506delinsGGTTC
NG_015806.1:g.16044_16048delinsGGTTC

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1706_1706+4delinsGGTTC
ENST00000264079.10:c.1706_1706+4delinsGGTTC
ENST00000394321.9:n.2021_2021+4delinsGGTTC
ENST00000599334.1:c.434_434+4delinsGGTTC
ENST00000601870.1:c.59_59+4delinsGGTTC
ENST00000602227.1:n.260_260+4delinsGGTTC
NM_020533.2:c.1706_1706+4delinsGGTTC
NM_020533.3:c.1706_1706+4delinsGGTTC
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