Canonical Allele Identifier: CA2813464286

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527778_7527779del , CM000681.2:g.7527778_7527779del	GRCh38
NC_000019.9:g.7592664_7592665del , CM000681.1:g.7592664_7592665del	GRCh37
NC_000019.8:g.7498664_7498665del	NCBI36
NG_015806.1:g.10169_10170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.681-86_681-85del MANE Select	ENSP00000264079.5:n.681-86_681-85del
ENST00000264079.10:c.681-86_681-85del	ENSP00000264079.5:n.681-86_681-85del
ENST00000394321.9:n.910_911del
ENST00000601003.1:c.572-86_572-85del	ENSP00000469074.1:n.572-86_572-85del
NM_020533.2:c.681-86_681-85del	NP_065394.1:n.681-86_681-85del
NM_020533.3:c.681-86_681-85del MANE Select	NP_065394.1:n.681-86_681-85del