Canonical Allele Identifier: CA626958050
Gene: NOG HGNC NCBI

Linked Data

dbSNP Id: rs1292265251
gnomAD v2: 17-54672417-TTC-T
gnomAD v3: 17-56595056-TTC-T
gnomAD v4: 17-56595056-TTC-T
MyVariant Identifiers: chr17:g.54672418_54672419del (hg19) chr17:g.56595057_56595058del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56595058_56595059del , CM000679.2:g.56595058_56595059del GRCh38
NC_000017.10:g.54672419_54672420del , CM000679.1:g.54672419_54672420del GRCh37
NC_000017.9:g.52027418_52027419del NCBI36
NG_011958.1:g.6360_6361del

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.*136_*137del MANE Select ENSP00000328181.4:n.*136_*137del
ENST00000332822.4:c.*136_*137del ENSP00000328181.4:n.*136_*137del
NM_005450.4:c.*136_*137del NP_005441.1:n.*136_*137del
NM_005450.6:c.*136_*137del MANE Select NP_005441.1:n.*136_*137del
Search 100 bp 5'
Search 100 bp 3'