Canonical Allele Identifier: CA993155394

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022628406
• gnomAD v3: 19-7529803-AGTCT-A
• gnomAD v4: 19-7529803-AGTCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529807_7529810del , CM000681.2:g.7529807_7529810del	GRCh38
NC_000019.9:g.7594693_7594696del , CM000681.1:g.7594693_7594696del	GRCh37
NC_000019.8:g.7500693_7500696del	NCBI36
NG_013374.1:g.656_659del
NG_015806.1:g.12198_12201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+95_1359+98del MANE Select	ENSP00000264079.5:n.1359+95_1359+98del
ENST00000264079.10:c.1359+95_1359+98del	ENSP00000264079.5:n.1359+95_1359+98del
ENST00000394321.9:n.1674+95_1674+98del
ENST00000594692.1:n.355+95_355+98del
ENST00000595860.5:n.542+95_542+98del
ENST00000599334.1:c.236+95_236+98del
NM_020533.2:c.1359+95_1359+98del	NP_065394.1:n.1359+95_1359+98del
NM_020533.3:c.1359+95_1359+98del MANE Select	NP_065394.1:n.1359+95_1359+98del