Canonical Allele Identifier: CA2587948545
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528066-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528067del , CM000681.2:g.7528067del GRCh38
NC_000019.9:g.7592953del , CM000681.1:g.7592953del GRCh37
NC_000019.8:g.7498953del NCBI36
NG_015806.1:g.10458del

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.778-91del MANE Select ENSP00000264079.5:n.778-91del
ENST00000264079.10:c.778-91del ENSP00000264079.5:n.778-91del
ENST00000394321.9:n.1093-91del
NM_020533.2:c.778-91del NP_065394.1:n.778-91del
NM_020533.3:c.778-91del MANE Select NP_065394.1:n.778-91del
Search 100 bp 5'
Search 100 bp 3'