Canonical Allele Identifier: CA2638880915

Gene: NOG

Linked Data

• gnomAD v4: 17-56594220-A-AGGCATGGAGCGCTGCCCCAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56594221_56594241dup , CM000679.2:g.56594221_56594241dup	GRCh38
NC_000017.10:g.54671582_54671602dup , CM000679.1:g.54671582_54671602dup	GRCh37
NC_000017.9:g.52026581_52026601dup	NCBI36
NG_011958.1:g.5523_5543dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332822.6:c.-3_18dup MANE Select	ENSP00000328181.4:p.Ser6_Leu7insGlyMetGluArgCysProSer
ENST00000332822.4:c.-3_18dup	ENSP00000328181.4:p.Ser6_Leu7insGlyMetGluArgCysProSer
NM_005450.4:c.-3_18dup	NP_005441.1:p.Ser6_Leu7insGlyMetGluArgCysProSer
NM_005450.6:c.-3_18dup MANE Select	NP_005441.1:p.Ser6_Leu7insGlyMetGluArgCysProSer