Canonical Allele Identifier: CA626222550

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 801409
• ClinVar RCV Id: RCV000986188 ; RCV003497913
• dbSNP Id: rs1597866458
• gnomAD v2: 17-42084997-TG-T
• gnomAD v4: 17-44007629-TG-T
• COSMIC: COSM4614805
• MyVariant Identifiers: chr17:g.42084998del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007635del , CM000679.2:g.44007635del	GRCh38
NC_000017.10:g.42085003del , CM000679.1:g.42085003del	GRCh37
NC_000017.9:g.39440529del	NCBI36
NG_008106.1:g.7972del
NG_023338.1:g.1840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1313del (NAGS) MANE Select	ENSP00000293404.2:p.Gly438AlafsTer10
ENST00000293404.7:c.1313del (NAGS)	ENSP00000293404.2:p.Gly438AlafsTer10
ENST00000589767.1:c.1244del (NAGS)	ENSP00000465408.1:p.Gly415AlafsTer10
ENST00000592915.1:n.1201del (NAGS)
NM_153006.2:c.1313del (NAGS)	NP_694551.1:p.Gly438AlafsTer10
XM_011524438.1:c.1268+141del (NAGS)	XP_011522740.1:n.1268+141del
XM_011524439.1:c.815del (NAGS)	XP_011522741.1:p.Gly272AlafsTer10
XM_011525035.1:c.-463+15942del (PYY)	XP_011523337.1:n.-463+15942del
XM_011524439.2:c.815del (NAGS)	XP_011522741.1:p.Gly272AlafsTer10
NM_153006.3:c.1313del (NAGS) MANE Select	NP_694551.1:p.Gly438AlafsTer10