Canonical Allele Identifier: CA2587948290
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527453-GGACTCTGGGGAGACCA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527455_7527470del , CM000681.2:g.7527455_7527470del GRCh38
NC_000019.9:g.7592341_7592356del , CM000681.1:g.7592341_7592356del GRCh37
NC_000019.8:g.7498341_7498356del NCBI36
NG_015806.1:g.9846_9861del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-65_572-50del MANE Select ENSP00000264079.5:n.572-65_572-50del
ENST00000264079.10:c.572-65_572-50del ENSP00000264079.5:n.572-65_572-50del
ENST00000394321.9:n.652-65_652-50del
ENST00000598406.1:n.393-65_393-50del
ENST00000601003.1:c.572-409_572-394del ENSP00000469074.1:n.572-409_572-394del
NM_020533.2:c.572-65_572-50del NP_065394.1:n.572-65_572-50del
NM_020533.3:c.572-65_572-50del MANE Select NP_065394.1:n.572-65_572-50del
Search 100 bp 5'
Search 100 bp 3'