Canonical Allele Identifier: CA2587950385

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7533827-T-TGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533829_7533830insCGG , CM000681.2:g.7533829_7533830insCGG	GRCh38
NC_000019.9:g.7598715_7598716insCGG , CM000681.1:g.7598715_7598716insCGG	GRCh37
NC_000019.8:g.7504715_7504716insCGG	NCBI36
NG_013374.1:g.4678_4679insCGG
NG_015806.1:g.16220_16221insCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*34_*35insCGG MANE Select	ENSP00000264079.5:n.*34_*35insCGG
ENST00000264079.10:c.*34_*35insCGG	ENSP00000264079.5:n.*34_*35insCGG
ENST00000394321.9:n.2092_2093insCGG
ENST00000599334.1:c.505_506insCGG
ENST00000601870.1:c.130_131insCGG
ENST00000602227.1:n.331_332insCGG
NM_020533.2:c.*34_*35insCGG	NP_065394.1:n.*34_*35insCGG
NM_020533.3:c.*34_*35insCGG MANE Select	NP_065394.1:n.*34_*35insCGG