Canonical Allele Identifier: CA2320961867

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526629_7526647delinsTGGTGGGCAGGCAGGTGCA , CM000681.2:g.7526629_7526647delinsTGGTGGGCAGGCAGGTGCA	GRCh38
NC_000019.9:g.7591515_7591533delinsTGGTGGGCAGGCAGGTGCA , CM000681.1:g.7591515_7591533delinsTGGTGGGCAGGCAGGTGCA	GRCh37
NC_000019.8:g.7497515_7497533delinsTGGTGGGCAGGCAGGTGCA	NCBI36
NG_015806.1:g.9020_9038delinsTGGTGGGCAGGCAGGTGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.405+23_405+41delinsTGGTGGGCAGGCAGGTGCA MANE Select	ENSP00000264079.5:n.405+23_405+41delinsTGGTGGGCAGGCAGGTGCA
ENST00000264079.10:c.405+23_405+41delinsTGGTGGGCAGGCAGGTGCA	ENSP00000264079.5:n.405+23_405+41delinsTGGTGGGCAGGCAGGTGCA
ENST00000394321.9:n.485+23_485+41delinsTGGTGGGCAGGCAGGTGCA
ENST00000596008.1:n.367+23_367+41delinsTGGTGGGCAGGCAGGTGCA
ENST00000598406.1:n.226+23_226+41delinsTGGTGGGCAGGCAGGTGCA
ENST00000601003.1:c.405+23_405+41delinsTGGTGGGCAGGCAGGTGCA	ENSP00000469074.1:n.405+23_405+41delinsTGGTGGGCAGGCAGGTGCA
NM_020533.2:c.405+23_405+41delinsTGGTGGGCAGGCAGGTGCA	NP_065394.1:n.405+23_405+41delinsTGGTGGGCAGGCAGGTGCA
NM_020533.3:c.405+23_405+41delinsTGGTGGGCAGGCAGGTGCA MANE Select	NP_065394.1:n.405+23_405+41delinsTGGTGGGCAGGCAGGTGCA