Canonical Allele Identifier: CA884201358
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1351569241
gnomAD v3: 19-7527815-GGAAGGGACCC-G
gnomAD v4: 19-7527815-GGAAGGGACCC-G
MyVariant Identifiers: chr19:g.7592702_7592711del (hg19) chr19:g.7527816_7527825del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527820_7527829del , CM000681.2:g.7527820_7527829del GRCh38
NC_000019.9:g.7592706_7592715del , CM000681.1:g.7592706_7592715del GRCh37
NC_000019.8:g.7498706_7498715del NCBI36
NG_015806.1:g.10211_10220del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.681-44_681-35del MANE Select ENSP00000264079.5:n.681-44_681-35del
ENST00000264079.10:c.681-44_681-35del ENSP00000264079.5:n.681-44_681-35del
ENST00000394321.9:n.952_961del
ENST00000601003.1:c.572-44_572-35del ENSP00000469074.1:n.572-44_572-35del
NM_020533.2:c.681-44_681-35del NP_065394.1:n.681-44_681-35del
NM_020533.3:c.681-44_681-35del MANE Select NP_065394.1:n.681-44_681-35del
Search 100 bp 5'
Search 100 bp 3'