Canonical Allele Identifier: CA2587948311
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527491_7527554del , CM000681.2:g.7527491_7527554del GRCh38
NC_000019.9:g.7592377_7592440del , CM000681.1:g.7592377_7592440del GRCh37
NC_000019.8:g.7498377_7498440del NCBI36
NG_015806.1:g.9882_9945del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-29_606del
ENST00000264079.10:c.572-29_606del
ENST00000394321.9:n.652-29_686del
ENST00000598406.1:n.393-29_427del
ENST00000601003.1:c.572-373_572-310del ENSP00000469074.1:n.572-373_572-310del
NM_020533.2:c.572-29_606del
NM_020533.3:c.572-29_606del