Canonical Allele Identifier: CA2587948585
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528276_7528277del , CM000681.2:g.7528276_7528277del GRCh38
NC_000019.9:g.7593162_7593163del , CM000681.1:g.7593162_7593163del GRCh37
NC_000019.8:g.7499162_7499163del NCBI36
NG_015806.1:g.10667_10668del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+19_877+20del MANE Select ENSP00000264079.5:n.877+19_877+20del
ENST00000264079.10:c.877+19_877+20del ENSP00000264079.5:n.877+19_877+20del
ENST00000394321.9:n.1192+19_1192+20del
NM_020533.2:c.877+19_877+20del NP_065394.1:n.877+19_877+20del
NM_020533.3:c.877+19_877+20del MANE Select NP_065394.1:n.877+19_877+20del