Canonical Allele Identifier: CA2573155897

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 1465671
• ClinVar RCV Id: RCV001959318
• dbSNP Id: rs2146022784

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526760_7526772del , CM000681.2:g.7526760_7526772del	GRCh38
NC_000019.9:g.7591646_7591658del , CM000681.1:g.7591646_7591658del	GRCh37
NC_000019.8:g.7497646_7497658del	NCBI36
NG_015806.1:g.9151_9163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.406-1_417del
ENST00000264079.10:c.406-1_417del
ENST00000394321.9:n.486-1_497del
ENST00000596008.1:n.368-1_379del
ENST00000598406.1:n.227-1_238del
ENST00000601003.1:c.406-1_417del
NM_020533.2:c.406-1_417del
NM_020533.3:c.406-1_417del