Canonical Allele Identifier: CA9138703

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 1539531
• ClinVar RCV Id: RCV002169633
• dbSNP Id: rs2146022564
• ExAC: 19:7591489 CCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGG / C
• gnomAD v2: 19-7591489-CCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGG-C
• gnomAD v3: 19-7526603-CCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGG-C
• gnomAD v4: 19-7526603-CCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGG-C
• MyVariant Identifiers: chr19:g.7591490_7591561del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526629_7526700del , CM000681.2:g.7526629_7526700del	GRCh38
NC_000019.9:g.7591515_7591586del , CM000681.1:g.7591515_7591586del	GRCh37
NC_000019.8:g.7497515_7497586del	NCBI36
NG_015806.1:g.9020_9091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.405+23_406-61del
ENST00000264079.10:c.405+23_406-61del
ENST00000394321.9:n.485+23_486-61del
ENST00000596008.1:n.367+23_368-61del
ENST00000598406.1:n.226+23_227-61del
ENST00000601003.1:c.405+23_406-61del
NM_020533.2:c.405+23_406-61del
NM_020533.3:c.405+23_406-61del