Canonical Allele Identifier: CA2320962229
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022585428
gnomAD v4: 19-7527270-TCAA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527271_7527273del , CM000681.2:g.7527271_7527273del GRCh38
NC_000019.9:g.7592157_7592159del , CM000681.1:g.7592157_7592159del GRCh37
NC_000019.8:g.7498157_7498159del NCBI36
NG_015806.1:g.9662_9664del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-249_572-247del MANE Select ENSP00000264079.5:n.572-249_572-247del
ENST00000264079.10:c.572-249_572-247del ENSP00000264079.5:n.572-249_572-247del
ENST00000394321.9:n.652-249_652-247del
ENST00000598406.1:n.393-249_393-247del
ENST00000601003.1:c.571+345_571+347del ENSP00000469074.1:n.571+345_571+347del
NM_020533.2:c.572-249_572-247del NP_065394.1:n.572-249_572-247del
NM_020533.3:c.572-249_572-247del MANE Select NP_065394.1:n.572-249_572-247del
Search 100 bp 5'
Search 100 bp 3'