Canonical Allele Identifier: CA2587949992

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7529857-A-AACAATAATGGCACAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529857_7529858insACAATAATGGCACAGGG , CM000681.2:g.7529857_7529858insACAATAATGGCACAGGG	GRCh38
NC_000019.9:g.7594743_7594744insACAATAATGGCACAGGG , CM000681.1:g.7594743_7594744insACAATAATGGCACAGGG	GRCh37
NC_000019.8:g.7500743_7500744insACAATAATGGCACAGGG	NCBI36
NG_013374.1:g.706_707insACAATAATGGCACAGGG
NG_015806.1:g.12248_12249insACAATAATGGCACAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+145_1359+146insACAATAATGGCACAGGG MANE Select	ENSP00000264079.5:n.1359+145_1359+146insACAATAATGGCACAGGG
ENST00000264079.10:c.1359+145_1359+146insACAATAATGGCACAGGG	ENSP00000264079.5:n.1359+145_1359+146insACAATAATGGCACAGGG
ENST00000394321.9:n.1674+145_1674+146insACAATAATGGCACAGGG
ENST00000594692.1:n.355+145_355+146insACAATAATGGCACAGGG
ENST00000595860.5:n.542+145_542+146insACAATAATGGCACAGGG
ENST00000599334.1:c.236+145_236+146insACAATAATGGCACAGGG
NM_020533.2:c.1359+145_1359+146insACAATAATGGCACAGGG	NP_065394.1:n.1359+145_1359+146insACAATAATGGCACAGGG
NM_020533.3:c.1359+145_1359+146insACAATAATGGCACAGGG MANE Select	NP_065394.1:n.1359+145_1359+146insACAATAATGGCACAGGG