Canonical Allele Identifier: CA913046765
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533785_7533786del , CM000681.2:g.7533785_7533786del GRCh38
NC_000019.9:g.7598671_7598672del , CM000681.1:g.7598671_7598672del GRCh37
NC_000019.8:g.7504671_7504672del NCBI36
NG_013374.1:g.4634_4635del
NG_015806.1:g.16176_16177del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1733_1734del MANE Select ENSP00000264079.5:p.Leu578ArgfsTer29
ENST00000264079.10:c.1733_1734del ENSP00000264079.5:p.Leu578ArgfsTer29
ENST00000394321.9:n.2048_2049del
ENST00000599334.1:c.461_462del
ENST00000601870.1:c.86_87del
ENST00000602227.1:n.287_288del
NM_020533.2:c.1733_1734del NP_065394.1:p.Leu578ArgfsTer29
NM_020533.3:c.1733_1734del MANE Select NP_065394.1:p.Leu578ArgfsTer29