Canonical Allele Identifier: CA6978323

Gene: NUDT15

Linked Data

• dbSNP Id: rs777836864
• ExAC: 13:48619849 GGA / G
• gnomAD v2: 13-48619849-GGA-G
• gnomAD v3: 13-48045713-GGA-G
• gnomAD v4: 13-48045713-GGA-G
• MyVariant Identifiers: chr13:g.48619850_48619851del (hg19) ; chr13:g.48045714_48045715del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48045714_48045715del , CM000675.2:g.48045714_48045715del	GRCh38
NC_000013.10:g.48619850_48619851del , CM000675.1:g.48619850_48619851del	GRCh37
NC_000013.9:g.47517851_47517852del	NCBI36
NG_047021.1:g.13148_13149del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258662.3:c.410_411del MANE Select	ENSP00000258662.1:p.Gly137AlafsTer10
ENST00000258662.2:c.410_411del	ENSP00000258662.1:p.Gly137AlafsTer10
NM_018283.2:c.410_411del	NP_060753.1:p.Gly137AlafsTer10
NM_018283.3:c.410_411del	NP_060753.1:p.Gly137AlafsTer10
NR_136687.1:n.590_591del
NR_136688.1:n.590_591del
NM_018283.4:c.410_411del MANE Select	NP_060753.1:p.Gly137AlafsTer10
NR_136687.2:n.431_432del
NR_136688.2:n.431_432del