Canonical Allele Identifier: CA2320962546

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527862_7527865delinsAGGC , CM000681.2:g.7527862_7527865delinsAGGC	GRCh38
NC_000019.9:g.7592748_7592751delinsAGGC , CM000681.1:g.7592748_7592751delinsAGGC	GRCh37
NC_000019.8:g.7498748_7498751delinsAGGC	NCBI36
NG_015806.1:g.10253_10256delinsAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.681-2_682delinsAGGC
ENST00000264079.10:c.681-2_682delinsAGGC
ENST00000394321.9:n.994_997delinsAGGC
ENST00000601003.1:c.572-2_573delinsAGGC
NM_020533.2:c.681-2_682delinsAGGC
NM_020533.3:c.681-2_682delinsAGGC