Canonical Allele Identifier: CA884200865
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1423600026

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527458_7527459del , CM000681.2:g.7527458_7527459del GRCh38
NC_000019.9:g.7592344_7592345del , CM000681.1:g.7592344_7592345del GRCh37
NC_000019.8:g.7498344_7498345del NCBI36
NG_015806.1:g.9849_9850del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-62_572-61del MANE Select ENSP00000264079.5:n.572-62_572-61del
ENST00000264079.10:c.572-62_572-61del ENSP00000264079.5:n.572-62_572-61del
ENST00000394321.9:n.652-62_652-61del
ENST00000598406.1:n.393-62_393-61del
ENST00000601003.1:c.572-406_572-405del ENSP00000469074.1:n.572-406_572-405del
NM_020533.2:c.572-62_572-61del NP_065394.1:n.572-62_572-61del
NM_020533.3:c.572-62_572-61del MANE Select NP_065394.1:n.572-62_572-61del