Canonical Allele Identifier: CA2587946720
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7524860-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524864del , CM000681.2:g.7524864del GRCh38
NC_000019.9:g.7589750del , CM000681.1:g.7589750del GRCh37
NC_000019.8:g.7495750del NCBI36
NG_015806.1:g.7255del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.32-97del MANE Select ENSP00000264079.5:n.32-97del
ENST00000264079.10:c.32-97del ENSP00000264079.5:n.32-97del
ENST00000394321.9:n.112-97del
ENST00000596390.1:n.148-97del
ENST00000601003.1:c.32-97del ENSP00000469074.1:n.32-97del
NM_020533.2:c.32-97del NP_065394.1:n.32-97del
XR_936293.1:n.94del
XR_936294.1:n.94del
XR_936295.1:n.94del
XR_936293.2:n.120del
XR_936294.2:n.120del
NM_020533.3:c.32-97del MANE Select NP_065394.1:n.32-97del
Search 100 bp 5'
Search 100 bp 3'