Canonical Allele Identifier: CA9138704

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1568398541
• ExAC: 19:7591489 CCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGG / C
• gnomAD v2: 19-7591489-CCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGG-C
• gnomAD v4: 19-7526603-CCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGG-C
• MyVariant Identifiers: chr19:g.7591497_7591561delinsAGGTGGGCGGGCAGGTGCAGTTGGGCGGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526611_7526646del , CM000681.2:g.7526611_7526646del	GRCh38
NC_000019.9:g.7591497_7591532del , CM000681.1:g.7591497_7591532del	GRCh37
NC_000019.8:g.7497497_7497532del	NCBI36
NG_015806.1:g.9002_9037del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.405+5_405+40del
ENST00000264079.10:c.405+5_405+40del
ENST00000394321.9:n.485+5_485+40del
ENST00000596008.1:n.367+5_367+40del
ENST00000598406.1:n.226+5_226+40del
ENST00000601003.1:c.405+5_405+40del
NM_020533.2:c.405+5_405+40del
NM_020533.3:c.405+5_405+40del