Canonical Allele Identifier: CA993153764
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022582443
gnomAD v3: 19-7527086-GC-G
gnomAD v4: 19-7527086-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527088del , CM000681.2:g.7527088del GRCh38
NC_000019.9:g.7591974del , CM000681.1:g.7591974del GRCh37
NC_000019.8:g.7497974del NCBI36
NG_015806.1:g.9479del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.571+162del MANE Select ENSP00000264079.5:n.571+162del
ENST00000264079.10:c.571+162del ENSP00000264079.5:n.571+162del
ENST00000394321.9:n.651+162del
ENST00000596008.1:n.695del
ENST00000598406.1:n.392+162del
ENST00000601003.1:c.571+162del ENSP00000469074.1:n.571+162del
NM_020533.2:c.571+162del NP_065394.1:n.571+162del
NM_020533.3:c.571+162del MANE Select NP_065394.1:n.571+162del
Search 100 bp 5'
Search 100 bp 3'