Canonical Allele Identifier: CA993156658

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022717627
• gnomAD v3: 19-7533937-CCTT-C
• gnomAD v4: 19-7533937-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533938_7533940del , CM000681.2:g.7533938_7533940del	GRCh38
NC_000019.9:g.7598824_7598826del , CM000681.1:g.7598824_7598826del	GRCh37
NC_000019.8:g.7504824_7504826del	NCBI36
NG_013374.1:g.4787_4789del
NG_015806.1:g.16329_16331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*143_*145del MANE Select	ENSP00000264079.5:n.*143_*145del
ENST00000264079.10:c.*143_*145del	ENSP00000264079.5:n.*143_*145del
ENST00000394321.9:n.2201_2203del
ENST00000599334.1:c.614_616del
ENST00000601870.1:c.169+70_169+72del
ENST00000602227.1:n.440_442del
NM_020533.2:c.*143_*145del	NP_065394.1:n.*143_*145del
NM_020533.3:c.*143_*145del MANE Select	NP_065394.1:n.*143_*145del