Canonical Allele Identifier: CA9138857
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs757161283
ExAC: 19:7592657 GCTGCAGAGT / G
gnomAD v2: 19-7592657-GCTGCAGAGT-G
gnomAD v4: 19-7527771-GCTGCAGAGT-G
MyVariant Identifiers: chr19:g.7592658_7592666del (hg19) chr19:g.7527772_7527780del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527773_7527781del , CM000681.2:g.7527773_7527781del GRCh38
NC_000019.9:g.7592659_7592667del , CM000681.1:g.7592659_7592667del GRCh37
NC_000019.8:g.7498659_7498667del NCBI36
NG_015806.1:g.10164_10172del

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.681-91_681-83del MANE Select ENSP00000264079.5:n.681-91_681-83del
ENST00000264079.10:c.681-91_681-83del ENSP00000264079.5:n.681-91_681-83del
ENST00000394321.9:n.905_913del
ENST00000601003.1:c.572-91_572-83del ENSP00000469074.1:n.572-91_572-83del
NM_020533.2:c.681-91_681-83del NP_065394.1:n.681-91_681-83del
NM_020533.3:c.681-91_681-83del MANE Select NP_065394.1:n.681-91_681-83del
Search 100 bp 5'
Search 100 bp 3'