Canonical Allele Identifier: CA2320962328
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527488_7527490delinsCCT , CM000681.2:g.7527488_7527490delinsCCT GRCh38
NC_000019.9:g.7592374_7592376delinsCCT , CM000681.1:g.7592374_7592376delinsCCT GRCh37
NC_000019.8:g.7498374_7498376delinsCCT NCBI36
NG_015806.1:g.9879_9881delinsCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-32_572-30delinsCCT MANE Select ENSP00000264079.5:n.572-32_572-30delinsCCT
ENST00000264079.10:c.572-32_572-30delinsCCT ENSP00000264079.5:n.572-32_572-30delinsCCT
ENST00000394321.9:n.652-32_652-30delinsCCT
ENST00000598406.1:n.393-32_393-30delinsCCT
ENST00000601003.1:c.572-376_572-374delinsCCT ENSP00000469074.1:n.572-376_572-374delinsCCT
NM_020533.2:c.572-32_572-30delinsCCT NP_065394.1:n.572-32_572-30delinsCCT
NM_020533.3:c.572-32_572-30delinsCCT MANE Select NP_065394.1:n.572-32_572-30delinsCCT
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