Canonical Allele Identifier: CA993153950

Gene: MCOLN1

Linked Data

• dbSNP Id: rs562144613
• gnomAD v3: 19-7527271-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
• gnomAD v4: 19-7527271-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527295_7527296insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000681.2:g.7527295_7527296insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000019.9:g.7592181_7592182insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000681.1:g.7592181_7592182insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000019.8:g.7498181_7498182insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_015806.1:g.9686_9687insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-225_572-224insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000264079.5:n.572-225_572-224insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000264079.10:c.572-225_572-224insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000264079.5:n.572-225_572-224insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000394321.9:n.652-225_652-224insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ENST00000598406.1:n.393-225_393-224insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ENST00000601003.1:c.571+369_571+370insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000469074.1:n.571+369_571+370insAAAAAAAAAAAAAAAAAAAAAAA...
NM_020533.2:c.572-225_572-224insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_065394.1:n.572-225_572-224insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_020533.3:c.572-225_572-224insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_065394.1:n.572-225_572-224insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...