Canonical Allele Identifier: CA2587948344
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527545-GCGGCCCCCTC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527548_7527557del , CM000681.2:g.7527548_7527557del GRCh38
NC_000019.9:g.7592434_7592443del , CM000681.1:g.7592434_7592443del GRCh37
NC_000019.8:g.7498434_7498443del NCBI36
NG_015806.1:g.9939_9948del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.600_609del MANE Select ENSP00000264079.5:p.Pro203AlafsTer?
ENST00000264079.10:c.600_609del ENSP00000264079.5:p.Pro203AlafsTer?
ENST00000394321.9:n.680_689del
ENST00000598406.1:n.421_430del
ENST00000601003.1:c.572-316_572-307del ENSP00000469074.1:n.572-316_572-307del
NM_020533.2:c.600_609del NP_065394.1:p.Pro203AlafsTer?
NM_020533.3:c.600_609del MANE Select NP_065394.1:p.Pro203AlafsTer?
Search 100 bp 5'
Search 100 bp 3'