Canonical Allele Identifier: CA9138829
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs775001723
ExAC: 19:7592569 ACT / A
gnomAD v2: 19-7592569-ACT-A
gnomAD v4: 19-7527683-ACT-A
MyVariant Identifiers: chr19:g.7592570_7592571del (hg19) chr19:g.7527684_7527685del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527687_7527688del , CM000681.2:g.7527687_7527688del GRCh38
NC_000019.9:g.7592573_7592574del , CM000681.1:g.7592573_7592574del GRCh37
NC_000019.8:g.7498573_7498574del NCBI36
NG_015806.1:g.10078_10079del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.680+59_680+60del MANE Select ENSP00000264079.5:n.680+59_680+60del
ENST00000264079.10:c.680+59_680+60del ENSP00000264079.5:n.680+59_680+60del
ENST00000394321.9:n.819_820del
ENST00000598406.1:n.560_561del
ENST00000601003.1:c.572-177_572-176del ENSP00000469074.1:n.572-177_572-176del
NM_020533.2:c.680+59_680+60del NP_065394.1:n.680+59_680+60del
NM_020533.3:c.680+59_680+60del MANE Select NP_065394.1:n.680+59_680+60del
Search 100 bp 5'
Search 100 bp 3'