Canonical Allele Identifier: CA2576596965
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527482del , CM000681.2:g.7527482del GRCh38
NC_000019.9:g.7592368del , CM000681.1:g.7592368del GRCh37
NC_000019.8:g.7498368del NCBI36
NG_015806.1:g.9873del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-38del MANE Select ENSP00000264079.5:n.572-38del
ENST00000264079.10:c.572-38del ENSP00000264079.5:n.572-38del
ENST00000394321.9:n.652-38del
ENST00000598406.1:n.393-38del
ENST00000601003.1:c.572-382del ENSP00000469074.1:n.572-382del
NM_020533.2:c.572-38del NP_065394.1:n.572-38del
NM_020533.3:c.572-38del MANE Select NP_065394.1:n.572-38del