Canonical Allele Identifier: CA2320963471

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022627814

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529756del , CM000681.2:g.7529756del	GRCh38
NC_000019.9:g.7594642del , CM000681.1:g.7594642del	GRCh37
NC_000019.8:g.7500642del	NCBI36
NG_013374.1:g.605del
NG_015806.1:g.12147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+44del MANE Select	ENSP00000264079.5:n.1359+44del
ENST00000264079.10:c.1359+44del	ENSP00000264079.5:n.1359+44del
ENST00000394321.9:n.1674+44del
ENST00000594692.1:n.355+44del
ENST00000595860.5:n.542+44del
ENST00000599334.1:c.236+44del
NM_020533.2:c.1359+44del	NP_065394.1:n.1359+44del
NM_020533.3:c.1359+44del MANE Select	NP_065394.1:n.1359+44del