Canonical Allele Identifier: CA347434
Gene: MCOLN1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.7528639del
GRCh37 chr19:g.7593525del
gnomAD v2:
19:7593524 CT / C
gnomAD v3:
19:7528638 CT / C
gnomAD v4:
chr19-7528638-CT-C
Joint Max Group AF 0.0000103 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.0000081 (NFE)
ClinVar RCV:
RCV000194725
RCV004020300
ClinVar Variation:
208039
dbSNP:
755042147
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528639del , CM000681.2:g.7528639del GRCh38
NC_000019.9:g.7593525del , CM000681.1:g.7593525del GRCh37
NC_000019.8:g.7499525del NCBI36
NG_015806.1:g.11030del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.920del MANE Select ENSP00000264079.5:p.Leu307ProfsTer?
ENST00000264079.10:c.920del ENSP00000264079.5:p.Leu307ProfsTer?
ENST00000394321.9:n.1235del
NM_020533.2:c.920del NP_065394.1:p.Leu307ProfsTer?
NM_020533.3:c.920del MANE Select NP_065394.1:p.Leu307ProfsTer?
Search 100 bp 5'
Search 100 bp 3'