Canonical Allele Identifier: CA2813464259

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526505_7526506insCCAAACACACCCAA , CM000681.2:g.7526505_7526506insCCAAACACACCCAA	GRCh38
NC_000019.9:g.7591391_7591392insCCAAACACACCCAA , CM000681.1:g.7591391_7591392insCCAAACACACCCAA	GRCh37
NC_000019.8:g.7497391_7497392insCCAAACACACCCAA	NCBI36
NG_015806.1:g.8896_8897insCCAAACACACCCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.304_305insCCAAACACACCCAA MANE Select	ENSP00000264079.5:p.Arg102ProfsTer?
ENST00000264079.10:c.304_305insCCAAACACACCCAA	ENSP00000264079.5:p.Arg102ProfsTer?
ENST00000394321.9:n.384_385insCCAAACACACCCAA
ENST00000596008.1:n.266_267insCCAAACACACCCAA
ENST00000598406.1:n.125_126insCCAAACACACCCAA
ENST00000601003.1:c.304_305insCCAAACACACCCAA	ENSP00000469074.1:p.Arg102ProfsTer?
NM_020533.2:c.304_305insCCAAACACACCCAA	NP_065394.1:p.Arg102ProfsTer?
NM_020533.3:c.304_305insCCAAACACACCCAA MANE Select	NP_065394.1:p.Arg102ProfsTer?