Canonical Allele Identifier: CA2320962219

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527267_7527269delinsGTC , CM000681.2:g.7527267_7527269delinsGTC	GRCh38
NC_000019.9:g.7592153_7592155delinsGTC , CM000681.1:g.7592153_7592155delinsGTC	GRCh37
NC_000019.8:g.7498153_7498155delinsGTC	NCBI36
NG_015806.1:g.9658_9660delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-253_572-251delinsGTC MANE Select	ENSP00000264079.5:n.572-253_572-251delinsGTC
ENST00000264079.10:c.572-253_572-251delinsGTC	ENSP00000264079.5:n.572-253_572-251delinsGTC
ENST00000394321.9:n.652-253_652-251delinsGTC
ENST00000598406.1:n.393-253_393-251delinsGTC
ENST00000601003.1:c.571+341_571+343delinsGTC	ENSP00000469074.1:n.571+341_571+343delinsGTC
NM_020533.2:c.572-253_572-251delinsGTC	NP_065394.1:n.572-253_572-251delinsGTC
NM_020533.3:c.572-253_572-251delinsGTC MANE Select	NP_065394.1:n.572-253_572-251delinsGTC