Canonical Allele Identifier: CA2587950389

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7533837-A-AGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533838_7533839insGGGGGGGGGGGGGG , CM000681.2:g.7533838_7533839insGGGGGGGGGGGGGG	GRCh38
NC_000019.9:g.7598724_7598725insGGGGGGGGGGGGGG , CM000681.1:g.7598724_7598725insGGGGGGGGGGGGGG	GRCh37
NC_000019.8:g.7504724_7504725insGGGGGGGGGGGGGG	NCBI36
NG_013374.1:g.4687_4688insGGGGGGGGGGGGGG
NG_015806.1:g.16229_16230insGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*43_*44insGGGGGGGGGGGGGG MANE Select	ENSP00000264079.5:n.*43_*44insGGGGGGGGGGGGGG
ENST00000264079.10:c.*43_*44insGGGGGGGGGGGGGG	ENSP00000264079.5:n.*43_*44insGGGGGGGGGGGGGG
ENST00000394321.9:n.2101_2102insGGGGGGGGGGGGGG
ENST00000599334.1:c.514_515insGGGGGGGGGGGGGG
ENST00000601870.1:c.139_140insGGGGGGGGGGGGGG
ENST00000602227.1:n.340_341insGGGGGGGGGGGGGG
NM_020533.2:c.*43_*44insGGGGGGGGGGGGGG	NP_065394.1:n.*43_*44insGGGGGGGGGGGGGG
NM_020533.3:c.*43_*44insGGGGGGGGGGGGGG MANE Select	NP_065394.1:n.*43_*44insGGGGGGGGGGGGGG