Canonical Allele Identifier: CA2320962226

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527270_7527273delinsTCAA , CM000681.2:g.7527270_7527273delinsTCAA	GRCh38
NC_000019.9:g.7592156_7592159delinsTCAA , CM000681.1:g.7592156_7592159delinsTCAA	GRCh37
NC_000019.8:g.7498156_7498159delinsTCAA	NCBI36
NG_015806.1:g.9661_9664delinsTCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-250_572-247delinsTCAA MANE Select	ENSP00000264079.5:n.572-250_572-247delinsTCAA
ENST00000264079.10:c.572-250_572-247delinsTCAA	ENSP00000264079.5:n.572-250_572-247delinsTCAA
ENST00000394321.9:n.652-250_652-247delinsTCAA
ENST00000598406.1:n.393-250_393-247delinsTCAA
ENST00000601003.1:c.571+344_571+347delinsTCAA	ENSP00000469074.1:n.571+344_571+347delinsTCAA
NM_020533.2:c.572-250_572-247delinsTCAA	NP_065394.1:n.572-250_572-247delinsTCAA
NM_020533.3:c.572-250_572-247delinsTCAA MANE Select	NP_065394.1:n.572-250_572-247delinsTCAA