Canonical Allele Identifier: CA2587948518
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528019del , CM000681.2:g.7528019del GRCh38
NC_000019.9:g.7592905del , CM000681.1:g.7592905del GRCh37
NC_000019.8:g.7498905del NCBI36
NG_015806.1:g.10410del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.777+59del MANE Select ENSP00000264079.5:n.777+59del
ENST00000264079.10:c.777+59del ENSP00000264079.5:n.777+59del
ENST00000394321.9:n.1092+59del
NM_020533.2:c.777+59del NP_065394.1:n.777+59del
NM_020533.3:c.777+59del MANE Select NP_065394.1:n.777+59del