Canonical Allele Identifier: CA626222551

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 1385518
• ClinVar RCV Id: RCV001888857
• dbSNP Id: rs1597866458
• gnomAD v2: 17-42084997-T-TG
• gnomAD v4: 17-44007629-T-TG
• MyVariant Identifiers: chr17:g.42084998_42084999insG (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1313dup (NAGS) MANE Select	ENSP00000293404.2:p.Thr439HisfsTer?
ENST00000293404.7:c.1313dup (NAGS)	ENSP00000293404.2:p.Thr439HisfsTer?
ENST00000589767.1:c.1244dup (NAGS)	ENSP00000465408.1:p.Thr416HisfsTer?
ENST00000592915.1:n.1201dup (NAGS)
NM_153006.2:c.1313dup (NAGS)	NP_694551.1:p.Thr439HisfsTer?
XM_011524438.1:c.1268+141dup (NAGS)	XP_011522740.1:n.1268+141dup
XM_011524439.1:c.815dup (NAGS)	XP_011522741.1:p.Thr273HisfsTer?
XM_011525035.1:c.-463+15942dup (PYY)	XP_011523337.1:n.-463+15942dup
XM_011524439.2:c.815dup (NAGS)	XP_011522741.1:p.Thr273HisfsTer?
NM_153006.3:c.1313dup (NAGS) MANE Select	NP_694551.1:p.Thr439HisfsTer?