Canonical Allele Identifier: CA2587948345

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527557-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527562_7527563del , CM000681.2:g.7527562_7527563del	GRCh38
NC_000019.9:g.7592448_7592449del , CM000681.1:g.7592448_7592449del	GRCh37
NC_000019.8:g.7498448_7498449del	NCBI36
NG_015806.1:g.9953_9954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.614_615del MANE Select	ENSP00000264079.5:p.Pro205GlnfsTer?
ENST00000264079.10:c.614_615del	ENSP00000264079.5:p.Pro205GlnfsTer?
ENST00000394321.9:n.694_695del
ENST00000598406.1:n.435_436del
ENST00000601003.1:c.572-302_572-301del	ENSP00000469074.1:n.572-302_572-301del
NM_020533.2:c.614_615del	NP_065394.1:p.Pro205GlnfsTer?
NM_020533.3:c.614_615del MANE Select	NP_065394.1:p.Pro205GlnfsTer?