Canonical Allele Identifier: CA9138719
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs762228060
ExAC: 19:7591533 AGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCT / A
gnomAD v2: 19-7591533-AGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCT-A
gnomAD v3: 19-7526647-AGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCT-A
gnomAD v4: 19-7526647-AGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCT-A
MyVariant Identifiers: chr19:g.7591534_7591569del (hg19) chr19:g.7526648_7526683del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526667_7526702del , CM000681.2:g.7526667_7526702del GRCh38
NC_000019.9:g.7591553_7591588del , CM000681.1:g.7591553_7591588del GRCh37
NC_000019.8:g.7497553_7497588del NCBI36
NG_015806.1:g.9058_9093del

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.405+61_406-59del MANE Select ENSP00000264079.5:n.405+61_406-59del
ENST00000264079.10:c.405+61_406-59del ENSP00000264079.5:n.405+61_406-59del
ENST00000394321.9:n.485+61_486-59del
ENST00000596008.1:n.367+61_368-59del
ENST00000598406.1:n.226+61_227-59del
ENST00000601003.1:c.405+61_406-59del ENSP00000469074.1:n.405+61_406-59del
NM_020533.2:c.405+61_406-59del NP_065394.1:n.405+61_406-59del
NM_020533.3:c.405+61_406-59del MANE Select NP_065394.1:n.405+61_406-59del
Search 100 bp 5'
Search 100 bp 3'