Canonical Allele Identifier: CA773336981

Gene: NOG

Linked Data

• dbSNP Id: rs71139919
• gnomAD v3: 17-56595031-CTTTTTTTT-C
• gnomAD v4: 17-56595031-CTTTTTTTT-C
• MyVariant Identifiers: chr17:g.54672393_54672400del (hg19) ; chr17:g.56595032_56595039del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56595050_56595057del , CM000679.2:g.56595050_56595057del	GRCh38
NC_000017.10:g.54672411_54672418del , CM000679.1:g.54672411_54672418del	GRCh37
NC_000017.9:g.52027410_52027417del	NCBI36
NG_011958.1:g.6352_6359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332822.6:c.*128_*135del MANE Select	ENSP00000328181.4:n.*128_*135del
ENST00000332822.4:c.*128_*135del	ENSP00000328181.4:n.*128_*135del
NM_005450.4:c.*128_*135del	NP_005441.1:n.*128_*135del
NM_005450.6:c.*128_*135del MANE Select	NP_005441.1:n.*128_*135del