Canonical Allele Identifier: CA347343
Gene: MCOLN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 208027
ClinVar RCV Id: RCV000192306
dbSNP Id: rs797044821

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526828_7526829del , CM000681.2:g.7526828_7526829del GRCh38
NC_000019.9:g.7591714_7591715del , CM000681.1:g.7591714_7591715del GRCh37
NC_000019.8:g.7497714_7497715del NCBI36
NG_015806.1:g.9219_9220del

Transcript Alleles

HGVS Amino-acid change
NM_020533.2:c.473_474del VV NP_065394.1:p.Thr158LysfsTer25
NM_020533.3:c.473_474del VV MANE Preferred
ENST00000264079.10:c.473_474del ENSP00000264079.5:p.Thr158LysfsTer25
ENST00000394321.9:n.553_554del
ENST00000596008.1:n.435_436del
ENST00000598406.1:n.294_295del
ENST00000601003.1:c.473_474del ENSP00000469074.1:p.Thr158LysfsTer25