Canonical Allele Identifier: CA2320963689
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530114_7530115delinsGC , CM000681.2:g.7530114_7530115delinsGC GRCh38
NC_000019.9:g.7595000_7595001delinsGC , CM000681.1:g.7595000_7595001delinsGC GRCh37
NC_000019.8:g.7501000_7501001delinsGC NCBI36
NG_013374.1:g.963_964delinsGC
NG_015806.1:g.12505_12506delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1360-172_1360-171delinsGC MANE Select ENSP00000264079.5:n.1360-172_1360-171delinsGC
ENST00000264079.10:c.1360-172_1360-171delinsGC ENSP00000264079.5:n.1360-172_1360-171delinsGC
ENST00000394321.9:n.1675-172_1675-171delinsGC
ENST00000594692.1:n.356-172_356-171delinsGC
ENST00000595860.5:n.543-172_543-171delinsGC
ENST00000599334.1:c.237-321_237-320delinsGC
NM_020533.2:c.1360-172_1360-171delinsGC NP_065394.1:n.1360-172_1360-171delinsGC
NM_020533.3:c.1360-172_1360-171delinsGC MANE Select NP_065394.1:n.1360-172_1360-171delinsGC
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