Canonical Allele Identifier: CA347335
Gene: MCOLN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 208022
ClinVar RCV Id: RCV000192301
dbSNP Id: rs797044817

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529188_7529190del , CM000681.2:g.7529188_7529190del GRCh38
NC_000019.9:g.7594074_7594076del , CM000681.1:g.7594074_7594076del GRCh37
NC_000019.8:g.7500074_7500076del NCBI36
NG_013374.1:g.37_39del
NG_015806.1:g.11579_11581del

Transcript Alleles

HGVS Amino-acid change
NM_020533.2:c.1222_1224del VV NP_065394.1:p.Phe408del
NM_020533.3:c.1222_1224del VV MANE Preferred NP_065394.1:p.Phe408del
ENST00000264079.10:c.1222_1224del ENSP00000264079.5:p.Phe408del
ENST00000394321.9:n.1537_1539del
ENST00000594692.1:n.218_220del
ENST00000595860.5:n.405_407del
ENST00000599334.1:n.99_101del