Canonical Allele Identifier: CA292532925
Gene: NOG HGNC NCBI

Linked Data

ClinVar Variation Id: 1280413
ClinVar RCV Id: RCV001695565
dbSNP Id: rs71139919
gnomAD v2: 17-54672392-CTT-C
gnomAD v3: 17-56595031-CTT-C
gnomAD v4: 17-56595031-CTT-C
MyVariant Identifiers: chr17:g.54672394_54672395del (hg19) chr17:g.54672393_54672394del (hg19) chr17:g.56595033_56595034del (hg38) chr17:g.56595032_56595033del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56595056_56595057del , CM000679.2:g.56595056_56595057del GRCh38
NC_000017.10:g.54672417_54672418del , CM000679.1:g.54672417_54672418del GRCh37
NC_000017.9:g.52027416_52027417del NCBI36
NG_011958.1:g.6358_6359del

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.*134_*135del MANE Select ENSP00000328181.4:n.*134_*135del
ENST00000332822.4:c.*134_*135del ENSP00000328181.4:n.*134_*135del
NM_005450.4:c.*134_*135del NP_005441.1:n.*134_*135del
NM_005450.6:c.*134_*135del MANE Select NP_005441.1:n.*134_*135del
Search 100 bp 5'
Search 100 bp 3'