Canonical Allele Identifier: CA631462769
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2985821
ClinVar RCV Id: RCV003841428
dbSNP Id: rs1481024851
gnomAD v2: 19-7591497-TGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCA-T
gnomAD v3: 19-7526611-TGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCA-T
gnomAD v4: 19-7526611-TGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCA-T
MyVariant Identifiers: chr19:g.7591498_7591533del (hg19) chr19:g.7526612_7526647del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526629_7526664del , CM000681.2:g.7526629_7526664del GRCh38
NC_000019.9:g.7591515_7591550del , CM000681.1:g.7591515_7591550del GRCh37
NC_000019.8:g.7497515_7497550del NCBI36
NG_015806.1:g.9020_9055del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.405+23_405+58del MANE Select ENSP00000264079.5:n.405+23_405+58del
ENST00000264079.10:c.405+23_405+58del ENSP00000264079.5:n.405+23_405+58del
ENST00000394321.9:n.485+23_485+58del
ENST00000596008.1:n.367+23_367+58del
ENST00000598406.1:n.226+23_226+58del
ENST00000601003.1:c.405+23_405+58del ENSP00000469074.1:n.405+23_405+58del
NM_020533.2:c.405+23_405+58del NP_065394.1:n.405+23_405+58del
NM_020533.3:c.405+23_405+58del MANE Select NP_065394.1:n.405+23_405+58del
Search 100 bp 5'
Search 100 bp 3'