Canonical Allele Identifier: CA2638146959

Gene: NAGS PYY

Linked Data

• gnomAD v4: 17-44007758-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007762dup , CM000679.2:g.44007762dup	GRCh38
NC_000017.10:g.42085130dup , CM000679.1:g.42085130dup	GRCh37
NC_000017.9:g.39440656dup	NCBI36
NG_008106.1:g.8099dup
NG_023338.1:g.1711dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1440dup (NAGS) MANE Select	ENSP00000293404.2:p.Ile481HisfsTer10
ENST00000293404.7:c.1440dup (NAGS)	ENSP00000293404.2:p.Ile481HisfsTer10
ENST00000589767.1:c.1371dup (NAGS)	ENSP00000465408.1:p.Ile458HisfsTer10
ENST00000592915.1:n.1328dup (NAGS)
NM_153006.2:c.1440dup (NAGS)	NP_694551.1:p.Ile481HisfsTer10
XM_011524438.1:c.1268+268dup (NAGS)	XP_011522740.1:n.1268+268dup
XM_011524439.1:c.942dup (NAGS)	XP_011522741.1:p.Ile315HisfsTer10
XM_011525035.1:c.-463+15813dup (PYY)	XP_011523337.1:n.-463+15813dup
XM_011524439.2:c.942dup (NAGS)	XP_011522741.1:p.Ile315HisfsTer10
NM_153006.3:c.1440dup (NAGS) MANE Select	NP_694551.1:p.Ile481HisfsTer10