Canonical Allele Identifier: CA2638146255

Gene: NAGS PYY

Linked Data

• gnomAD v4: 17-44006103-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006104del , CM000679.2:g.44006104del	GRCh38
NC_000017.10:g.42083472del , CM000679.1:g.42083472del	GRCh37
NC_000017.9:g.39438998del	NCBI36
NG_008106.1:g.6441del
NG_023338.1:g.3366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.782del (NAGS) MANE Select	ENSP00000293404.2:p.Ile261ThrfsTer17
ENST00000293404.7:c.782del (NAGS)	ENSP00000293404.2:p.Ile261ThrfsTer17
ENST00000589767.1:c.689del (NAGS)	ENSP00000465408.1:p.Ile230ThrfsTer17
ENST00000592915.1:n.57del (NAGS)
NM_153006.2:c.782del (NAGS)	NP_694551.1:p.Ile261ThrfsTer17
XM_011524438.1:c.782del (NAGS)	XP_011522740.1:p.Ile261ThrfsTer17
XM_011524439.1:c.284del (NAGS)	XP_011522741.1:p.Ile95ThrfsTer17
XM_011525035.1:c.-463+17468del (PYY)	XP_011523337.1:n.-463+17468del
XM_011524439.2:c.284del (NAGS)	XP_011522741.1:p.Ile95ThrfsTer17
NM_153006.3:c.782del (NAGS) MANE Select	NP_694551.1:p.Ile261ThrfsTer17