Canonical Allele Identifier: CA884198459
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1359766337
MyVariant Identifiers: chr19:g.7589588_7589597del (hg19) chr19:g.7524702_7524711del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524705_7524714del , CM000681.2:g.7524705_7524714del GRCh38
NC_000019.9:g.7589591_7589600del , CM000681.1:g.7589591_7589600del GRCh37
NC_000019.8:g.7495591_7495600del NCBI36
NG_015806.1:g.7096_7105del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.32-256_32-247del MANE Select ENSP00000264079.5:n.32-256_32-247del
ENST00000264079.10:c.32-256_32-247del ENSP00000264079.5:n.32-256_32-247del
ENST00000394321.9:n.112-256_112-247del
ENST00000596390.1:n.148-256_148-247del
ENST00000601003.1:c.32-256_32-247del ENSP00000469074.1:n.32-256_32-247del
NM_020533.2:c.32-256_32-247del NP_065394.1:n.32-256_32-247del
XR_936293.1:n.244_253del
XR_936294.1:n.244_253del
XR_936295.1:n.154+90_154+99del
XR_936293.2:n.270_279del
XR_936294.2:n.270_279del
NM_020533.3:c.32-256_32-247del MANE Select NP_065394.1:n.32-256_32-247del
Search 100 bp 5'
Search 100 bp 3'