Canonical Allele Identifier: CA2320962221

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527269_7527270delinsCT , CM000681.2:g.7527269_7527270delinsCT	GRCh38
NC_000019.9:g.7592155_7592156delinsCT , CM000681.1:g.7592155_7592156delinsCT	GRCh37
NC_000019.8:g.7498155_7498156delinsCT	NCBI36
NG_015806.1:g.9660_9661delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-251_572-250delinsCT MANE Select	ENSP00000264079.5:n.572-251_572-250delinsCT
ENST00000264079.10:c.572-251_572-250delinsCT	ENSP00000264079.5:n.572-251_572-250delinsCT
ENST00000394321.9:n.652-251_652-250delinsCT
ENST00000598406.1:n.393-251_393-250delinsCT
ENST00000601003.1:c.571+343_571+344delinsCT	ENSP00000469074.1:n.571+343_571+344delinsCT
NM_020533.2:c.572-251_572-250delinsCT	NP_065394.1:n.572-251_572-250delinsCT
NM_020533.3:c.572-251_572-250delinsCT MANE Select	NP_065394.1:n.572-251_572-250delinsCT