Canonical Allele Identifier: CA8595285

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs760201540
• ExAC: 17:42083949 A / AGTGG
• gnomAD v2: 17-42083949-A-AGTGG
• gnomAD v4: 17-44006581-A-AGTGG
• MyVariant Identifiers: chr17:g.42083953_42083954insGTGG (hg19) ; chr17:g.42083949_42083950insGTGG (hg19) ; chr17:g.44006581_44006582insGTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006585_44006588dup , CM000679.2:g.44006585_44006588dup	GRCh38
NC_000017.10:g.42083953_42083956dup , CM000679.1:g.42083953_42083956dup	GRCh37
NC_000017.9:g.39439479_39439482dup	NCBI36
NG_008106.1:g.6922_6925dup
NG_023338.1:g.2885_2888dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.972_975dup (NAGS) MANE Select	ENSP00000293404.2:p.Ser326GlyfsTer31
ENST00000293404.7:c.972_975dup (NAGS)	ENSP00000293404.2:p.Ser326GlyfsTer31
ENST00000589767.1:c.879_882dup (NAGS)	ENSP00000465408.1:p.Ser295GlyfsTer31
ENST00000592915.1:n.247_250dup (NAGS)
NM_153006.2:c.972_975dup (NAGS)	NP_694551.1:p.Ser326GlyfsTer31
XM_011524438.1:c.972_975dup (NAGS)	XP_011522740.1:p.Ser326GlyfsTer31
XM_011524439.1:c.474_477dup (NAGS)	XP_011522741.1:p.Ser160GlyfsTer31
XM_011525035.1:c.-463+16987_-463+16990dup (PYY)	XP_011523337.1:n.-463+16987_-463+16990dup
XM_011524439.2:c.474_477dup (NAGS)	XP_011522741.1:p.Ser160GlyfsTer31
NM_153006.3:c.972_975dup (NAGS) MANE Select	NP_694551.1:p.Ser326GlyfsTer31