Canonical Allele Identifier: CA2638146956

Gene: NAGS PYY

Linked Data

• gnomAD v4: 17-44007703-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007706del , CM000679.2:g.44007706del	GRCh38
NC_000017.10:g.42085074del , CM000679.1:g.42085074del	GRCh37
NC_000017.9:g.39440600del	NCBI36
NG_008106.1:g.8043del
NG_023338.1:g.1766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1384del (NAGS) MANE Select	ENSP00000293404.2:p.Glu462SerfsTer?
ENST00000293404.7:c.1384del (NAGS)	ENSP00000293404.2:p.Glu462SerfsTer?
ENST00000589767.1:c.1315del (NAGS)	ENSP00000465408.1:p.Glu439SerfsTer?
ENST00000592915.1:n.1272del (NAGS)
NM_153006.2:c.1384del (NAGS)	NP_694551.1:p.Glu462SerfsTer?
XM_011524438.1:c.1268+212del (NAGS)	XP_011522740.1:n.1268+212del
XM_011524439.1:c.886del (NAGS)	XP_011522741.1:p.Glu296SerfsTer?
XM_011525035.1:c.-463+15868del (PYY)	XP_011523337.1:n.-463+15868del
XM_011524439.2:c.886del (NAGS)	XP_011522741.1:p.Glu296SerfsTer?
NM_153006.3:c.1384del (NAGS) MANE Select	NP_694551.1:p.Glu462SerfsTer?