Canonical Allele Identifier: CA2587948578
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528263-CCCCTGAGCCCCAGACCAGCACTGACCAGGGGCCCTGGCCTGTCCTGGGATT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528267_7528317del , CM000681.2:g.7528267_7528317del GRCh38
NC_000019.9:g.7593153_7593203del , CM000681.1:g.7593153_7593203del GRCh37
NC_000019.8:g.7499153_7499203del NCBI36
NG_015806.1:g.10658_10708del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+10_877+60del MANE Select ENSP00000264079.5:n.877+10_877+60del
ENST00000264079.10:c.877+10_877+60del ENSP00000264079.5:n.877+10_877+60del
ENST00000394321.9:n.1192+10_1192+60del
NM_020533.2:c.877+10_877+60del NP_065394.1:n.877+10_877+60del
NM_020533.3:c.877+10_877+60del MANE Select NP_065394.1:n.877+10_877+60del
Search 100 bp 5'
Search 100 bp 3'