Canonical Allele Identifier: CA2638146382

Gene: NAGS PYY

Linked Data

• gnomAD v4: 17-44006166-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006168del , CM000679.2:g.44006168del	GRCh38
NC_000017.10:g.42083536del , CM000679.1:g.42083536del	GRCh37
NC_000017.9:g.39439062del	NCBI36
NG_008106.1:g.6505del
NG_023338.1:g.3303del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.846del (NAGS) MANE Select	ENSP00000293404.2:p.Lys283ArgfsTer25
ENST00000293404.7:c.846del (NAGS)	ENSP00000293404.2:p.Lys283ArgfsTer25
ENST00000589767.1:c.753del (NAGS)	ENSP00000465408.1:p.Lys252ArgfsTer25
ENST00000592915.1:n.121del (NAGS)
NM_153006.2:c.846del (NAGS)	NP_694551.1:p.Lys283ArgfsTer25
XM_011524438.1:c.846del (NAGS)	XP_011522740.1:p.Lys283ArgfsTer25
XM_011524439.1:c.348del (NAGS)	XP_011522741.1:p.Lys117ArgfsTer25
XM_011525035.1:c.-463+17405del (PYY)	XP_011523337.1:n.-463+17405del
XM_011524439.2:c.348del (NAGS)	XP_011522741.1:p.Lys117ArgfsTer25
NM_153006.3:c.846del (NAGS) MANE Select	NP_694551.1:p.Lys283ArgfsTer25