Canonical Allele Identifier: CA2320961913

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526683_7526701delinsTGGTGGGCGGGCAGGTGCA , CM000681.2:g.7526683_7526701delinsTGGTGGGCGGGCAGGTGCA	GRCh38
NC_000019.9:g.7591569_7591587delinsTGGTGGGCGGGCAGGTGCA , CM000681.1:g.7591569_7591587delinsTGGTGGGCGGGCAGGTGCA	GRCh37
NC_000019.8:g.7497569_7497587delinsTGGTGGGCGGGCAGGTGCA	NCBI36
NG_015806.1:g.9074_9092delinsTGGTGGGCGGGCAGGTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.406-78_406-60delinsTGGTGGGCGGGCAGGTGCA MANE Select	ENSP00000264079.5:n.406-78_406-60delinsTGGTGGGCGGGCAGGTGCA
ENST00000264079.10:c.406-78_406-60delinsTGGTGGGCGGGCAGGTGCA	ENSP00000264079.5:n.406-78_406-60delinsTGGTGGGCGGGCAGGTGCA
ENST00000394321.9:n.486-78_486-60delinsTGGTGGGCGGGCAGGTGCA
ENST00000596008.1:n.368-78_368-60delinsTGGTGGGCGGGCAGGTGCA
ENST00000598406.1:n.227-78_227-60delinsTGGTGGGCGGGCAGGTGCA
ENST00000601003.1:c.406-78_406-60delinsTGGTGGGCGGGCAGGTGCA	ENSP00000469074.1:n.406-78_406-60delinsTGGTGGGCGGGCAGGTGCA
NM_020533.2:c.406-78_406-60delinsTGGTGGGCGGGCAGGTGCA	NP_065394.1:n.406-78_406-60delinsTGGTGGGCGGGCAGGTGCA
NM_020533.3:c.406-78_406-60delinsTGGTGGGCGGGCAGGTGCA MANE Select	NP_065394.1:n.406-78_406-60delinsTGGTGGGCGGGCAGGTGCA