Canonical Allele Identifier: CA773336976
Gene: NOG HGNC NCBI

Linked Data

dbSNP Id: rs71139919
gnomAD v3: 17-56595031-CTTTTTT-C
gnomAD v4: 17-56595031-CTTTTTT-C
MyVariant Identifiers: chr17:g.54672393_54672398del (hg19) chr17:g.56595032_56595037del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56595052_56595057del , CM000679.2:g.56595052_56595057del GRCh38
NC_000017.10:g.54672413_54672418del , CM000679.1:g.54672413_54672418del GRCh37
NC_000017.9:g.52027412_52027417del NCBI36
NG_011958.1:g.6354_6359del

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.*130_*135del MANE Select ENSP00000328181.4:n.*130_*135del
ENST00000332822.4:c.*130_*135del ENSP00000328181.4:n.*130_*135del
NM_005450.4:c.*130_*135del NP_005441.1:n.*130_*135del
NM_005450.6:c.*130_*135del MANE Select NP_005441.1:n.*130_*135del
Search 100 bp 5'
Search 100 bp 3'