Canonical Allele Identifier: CA9138710
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs768863670
ExAC: 19:7591505 GGGCAGGTGCTGGTGGGCA / G
gnomAD v2: 19-7591505-GGGCAGGTGCTGGTGGGCA-G
gnomAD v3: 19-7526619-GGGCAGGTGCTGGTGGGCA-G
gnomAD v4: 19-7526619-GGGCAGGTGCTGGTGGGCA-G
MyVariant Identifiers: chr19:g.7591506_7591523del (hg19) chr19:g.7526620_7526637del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526629_7526646del , CM000681.2:g.7526629_7526646del GRCh38
NC_000019.9:g.7591515_7591532del , CM000681.1:g.7591515_7591532del GRCh37
NC_000019.8:g.7497515_7497532del NCBI36
NG_015806.1:g.9020_9037del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.405+23_405+40del MANE Select ENSP00000264079.5:n.405+23_405+40del
ENST00000264079.10:c.405+23_405+40del ENSP00000264079.5:n.405+23_405+40del
ENST00000394321.9:n.485+23_485+40del
ENST00000596008.1:n.367+23_367+40del
ENST00000598406.1:n.226+23_226+40del
ENST00000601003.1:c.405+23_405+40del ENSP00000469074.1:n.405+23_405+40del
NM_020533.2:c.405+23_405+40del NP_065394.1:n.405+23_405+40del
NM_020533.3:c.405+23_405+40del MANE Select NP_065394.1:n.405+23_405+40del
Search 100 bp 5'
Search 100 bp 3'