Canonical Allele Identifier: CA993153958

Gene: MCOLN1

Linked Data

• gnomAD v3: 19-7527271-C-CAAAAAAAAAAAAAACAAAAAAA
• gnomAD v4: 19-7527271-C-CAAAAAAAAAAAAAACAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527285_7527286insCAAAAAAAAAAAAAAAAAAAAA , CM000681.2:g.7527285_7527286insCAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000019.9:g.7592171_7592172insCAAAAAAAAAAAAAAAAAAAAA , CM000681.1:g.7592171_7592172insCAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000019.8:g.7498171_7498172insCAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_015806.1:g.9676_9677insCAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-235_572-234insCAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000264079.5:n.572-235_572-234insCAAAAAAAAAAAAAAAAAAAAA
ENST00000264079.10:c.572-235_572-234insCAAAAAAAAAAAAAAAAAAAAA	ENSP00000264079.5:n.572-235_572-234insCAAAAAAAAAAAAAAAAAAAAA
ENST00000394321.9:n.652-235_652-234insCAAAAAAAAAAAAAAAAAAAAA
ENST00000598406.1:n.393-235_393-234insCAAAAAAAAAAAAAAAAAAAAA
ENST00000601003.1:c.571+359_571+360insCAAAAAAAAAAAAAAAAAAAAA	ENSP00000469074.1:n.571+359_571+360insCAAAAAAAAAAAAAAAAAAAAA
NM_020533.2:c.572-235_572-234insCAAAAAAAAAAAAAAAAAAAAA	NP_065394.1:n.572-235_572-234insCAAAAAAAAAAAAAAAAAAAAA
NM_020533.3:c.572-235_572-234insCAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_065394.1:n.572-235_572-234insCAAAAAAAAAAAAAAAAAAAAA