Canonical Allele Identifier: CA2320962527

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527836_7527837delinsCT , CM000681.2:g.7527836_7527837delinsCT	GRCh38
NC_000019.9:g.7592722_7592723delinsCT , CM000681.1:g.7592722_7592723delinsCT	GRCh37
NC_000019.8:g.7498722_7498723delinsCT	NCBI36
NG_015806.1:g.10227_10228delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.681-28_681-27delinsCT MANE Select	ENSP00000264079.5:n.681-28_681-27delinsCT
ENST00000264079.10:c.681-28_681-27delinsCT	ENSP00000264079.5:n.681-28_681-27delinsCT
ENST00000394321.9:n.968_969delinsCT
ENST00000601003.1:c.572-28_572-27delinsCT	ENSP00000469074.1:n.572-28_572-27delinsCT
NM_020533.2:c.681-28_681-27delinsCT	NP_065394.1:n.681-28_681-27delinsCT
NM_020533.3:c.681-28_681-27delinsCT MANE Select	NP_065394.1:n.681-28_681-27delinsCT