Canonical Allele Identifier: CA2320962306
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527455_7527457delinsACT , CM000681.2:g.7527455_7527457delinsACT GRCh38
NC_000019.9:g.7592341_7592343delinsACT , CM000681.1:g.7592341_7592343delinsACT GRCh37
NC_000019.8:g.7498341_7498343delinsACT NCBI36
NG_015806.1:g.9846_9848delinsACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-65_572-63delinsACT MANE Select ENSP00000264079.5:n.572-65_572-63delinsACT
ENST00000264079.10:c.572-65_572-63delinsACT ENSP00000264079.5:n.572-65_572-63delinsACT
ENST00000394321.9:n.652-65_652-63delinsACT
ENST00000598406.1:n.393-65_393-63delinsACT
ENST00000601003.1:c.572-409_572-407delinsACT ENSP00000469074.1:n.572-409_572-407delinsACT
NM_020533.2:c.572-65_572-63delinsACT NP_065394.1:n.572-65_572-63delinsACT
NM_020533.3:c.572-65_572-63delinsACT MANE Select NP_065394.1:n.572-65_572-63delinsACT
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