Canonical Allele Identifier: CA983969132

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs2049085992
• gnomAD v3: 17-44006083-G-GCAT
• gnomAD v4: 17-44006083-G-GCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006085_44006087dup , CM000679.2:g.44006085_44006087dup	GRCh38
NC_000017.10:g.42083453_42083455dup , CM000679.1:g.42083453_42083455dup	GRCh37
NC_000017.9:g.39438979_39438981dup	NCBI36
NG_008106.1:g.6422_6424dup
NG_023338.1:g.3384_3386dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.763_765dup (NAGS) MANE Select	ENSP00000293404.2:p.Ile255_Pro256insIle
ENST00000293404.7:c.763_765dup (NAGS)	ENSP00000293404.2:p.Ile255_Pro256insIle
ENST00000589767.1:c.670_672dup (NAGS)	ENSP00000465408.1:p.Ile224_Pro225insIle
ENST00000592915.1:n.38_40dup (NAGS)
NM_153006.2:c.763_765dup (NAGS)	NP_694551.1:p.Ile255_Pro256insIle
XM_011524438.1:c.763_765dup (NAGS)	XP_011522740.1:p.Ile255_Pro256insIle
XM_011524439.1:c.265_267dup (NAGS)	XP_011522741.1:p.Ile89_Pro90insIle
XM_011525035.1:c.-463+17486_-463+17488dup (PYY)	XP_011523337.1:n.-463+17486_-463+17488dup
XM_011524439.2:c.265_267dup (NAGS)	XP_011522741.1:p.Ile89_Pro90insIle
NM_153006.3:c.763_765dup (NAGS) MANE Select	NP_694551.1:p.Ile255_Pro256insIle