Canonical Allele Identifier: CA2587949908

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7529729-ATGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529730_7529732del , CM000681.2:g.7529730_7529732del	GRCh38
NC_000019.9:g.7594616_7594618del , CM000681.1:g.7594616_7594618del	GRCh37
NC_000019.8:g.7500616_7500618del	NCBI36
NG_013374.1:g.579_581del
NG_015806.1:g.12121_12123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+18_1359+20del MANE Select	ENSP00000264079.5:n.1359+18_1359+20del
ENST00000264079.10:c.1359+18_1359+20del	ENSP00000264079.5:n.1359+18_1359+20del
ENST00000394321.9:n.1674+18_1674+20del
ENST00000594692.1:n.355+18_355+20del
ENST00000595860.5:n.542+18_542+20del
ENST00000599334.1:c.236+18_236+20del
NM_020533.2:c.1359+18_1359+20del	NP_065394.1:n.1359+18_1359+20del
NM_020533.3:c.1359+18_1359+20del MANE Select	NP_065394.1:n.1359+18_1359+20del