Canonical Allele Identifier: CA2587948590
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528278-CCAGCACTGACCAGGGGCCCTGGCCTGTCCTGGGATTCCCCAAGCCCCAGAT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528283_7528333del , CM000681.2:g.7528283_7528333del GRCh38
NC_000019.9:g.7593169_7593219del , CM000681.1:g.7593169_7593219del GRCh37
NC_000019.8:g.7499169_7499219del NCBI36
NG_015806.1:g.10674_10724del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+26_877+76del MANE Select ENSP00000264079.5:n.877+26_877+76del
ENST00000264079.10:c.877+26_877+76del ENSP00000264079.5:n.877+26_877+76del
ENST00000394321.9:n.1192+26_1192+76del
NM_020533.2:c.877+26_877+76del NP_065394.1:n.877+26_877+76del
NM_020533.3:c.877+26_877+76del MANE Select NP_065394.1:n.877+26_877+76del
Search 100 bp 5'
Search 100 bp 3'