Canonical Allele Identifier: CA2587949910

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7529733-CCCTGACATTGACCCTGTGACCTTGTCATTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529735_7529765del , CM000681.2:g.7529735_7529765del	GRCh38
NC_000019.9:g.7594621_7594651del , CM000681.1:g.7594621_7594651del	GRCh37
NC_000019.8:g.7500621_7500651del	NCBI36
NG_013374.1:g.584_614del
NG_015806.1:g.12126_12156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+23_1359+53del MANE Select	ENSP00000264079.5:n.1359+23_1359+53del
ENST00000264079.10:c.1359+23_1359+53del	ENSP00000264079.5:n.1359+23_1359+53del
ENST00000394321.9:n.1674+23_1674+53del
ENST00000594692.1:n.355+23_355+53del
ENST00000595860.5:n.542+23_542+53del
ENST00000599334.1:c.236+23_236+53del
NM_020533.2:c.1359+23_1359+53del	NP_065394.1:n.1359+23_1359+53del
NM_020533.3:c.1359+23_1359+53del MANE Select	NP_065394.1:n.1359+23_1359+53del