Canonical Allele Identifier: CA2320963518

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022629185
• gnomAD v4: 19-7529860-ATTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529865_7529867del , CM000681.2:g.7529865_7529867del	GRCh38
NC_000019.9:g.7594751_7594753del , CM000681.1:g.7594751_7594753del	GRCh37
NC_000019.8:g.7500751_7500753del	NCBI36
NG_013374.1:g.714_716del
NG_015806.1:g.12256_12258del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+153_1359+155del MANE Select	ENSP00000264079.5:n.1359+153_1359+155del
ENST00000264079.10:c.1359+153_1359+155del	ENSP00000264079.5:n.1359+153_1359+155del
ENST00000394321.9:n.1674+153_1674+155del
ENST00000594692.1:n.355+153_355+155del
ENST00000595860.5:n.542+153_542+155del
ENST00000599334.1:c.236+153_236+155del
NM_020533.2:c.1359+153_1359+155del	NP_065394.1:n.1359+153_1359+155del
NM_020533.3:c.1359+153_1359+155del MANE Select	NP_065394.1:n.1359+153_1359+155del