Canonical Allele Identifier: CA2587948297
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527458-CTGGGGAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527459_7527465del , CM000681.2:g.7527459_7527465del GRCh38
NC_000019.9:g.7592345_7592351del , CM000681.1:g.7592345_7592351del GRCh37
NC_000019.8:g.7498345_7498351del NCBI36
NG_015806.1:g.9850_9856del

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.572-61_572-55del MANE Select ENSP00000264079.5:n.572-61_572-55del
ENST00000264079.10:c.572-61_572-55del ENSP00000264079.5:n.572-61_572-55del
ENST00000394321.9:n.652-61_652-55del
ENST00000598406.1:n.393-61_393-55del
ENST00000601003.1:c.572-405_572-399del ENSP00000469074.1:n.572-405_572-399del
NM_020533.2:c.572-61_572-55del NP_065394.1:n.572-61_572-55del
NM_020533.3:c.572-61_572-55del MANE Select NP_065394.1:n.572-61_572-55del
Search 100 bp 5'
Search 100 bp 3'