Canonical Allele Identifier: CA2320962456

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527722_7527729delinsGGCCCCCC , CM000681.2:g.7527722_7527729delinsGGCCCCCC	GRCh38
NC_000019.9:g.7592608_7592615delinsGGCCCCCC , CM000681.1:g.7592608_7592615delinsGGCCCCCC	GRCh37
NC_000019.8:g.7498608_7498615delinsGGCCCCCC	NCBI36
NG_015806.1:g.10113_10120delinsGGCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.680+94_680+101delinsGGCCCCCC MANE Select	ENSP00000264079.5:n.680+94_680+101delinsGGCCCCCC
ENST00000264079.10:c.680+94_680+101delinsGGCCCCCC	ENSP00000264079.5:n.680+94_680+101delinsGGCCCCCC
ENST00000394321.9:n.854_861delinsGGCCCCCC
ENST00000598406.1:n.595_602delinsGGCCCCCC
ENST00000601003.1:c.572-142_572-135delinsGGCCCCCC	ENSP00000469074.1:n.572-142_572-135delinsGGCCCCCC
NM_020533.2:c.680+94_680+101delinsGGCCCCCC	NP_065394.1:n.680+94_680+101delinsGGCCCCCC
NM_020533.3:c.680+94_680+101delinsGGCCCCCC MANE Select	NP_065394.1:n.680+94_680+101delinsGGCCCCCC