Canonical Allele Identifier: CA2580093934

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 1933213
• ClinVar RCV Id: RCV002635867

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006650_44006683del , CM000679.2:g.44006650_44006683del	GRCh38
NC_000017.10:g.42084018_42084051del , CM000679.1:g.42084018_42084051del	GRCh37
NC_000017.9:g.39439544_39439577del	NCBI36
NG_008106.1:g.6987_7020del
NG_023338.1:g.2787_2820del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1037_1070del (NAGS) MANE Select	ENSP00000293404.2:p.His346ArgfsTer?
ENST00000293404.7:c.1037_1070del (NAGS)	ENSP00000293404.2:p.His346ArgfsTer?
ENST00000589767.1:c.944_977del (NAGS)	ENSP00000465408.1:p.His315ArgfsTer?
ENST00000592915.1:n.312_345del (NAGS)
NM_153006.2:c.1037_1070del (NAGS)	NP_694551.1:p.His346ArgfsTer?
XM_011524438.1:c.1037_1070del (NAGS)	XP_011522740.1:p.His346ArgfsTer?
XM_011524439.1:c.539_572del (NAGS)	XP_011522741.1:p.His180ArgfsTer?
XM_011525035.1:c.-463+16889_-463+16922del (PYY)	XP_011523337.1:n.-463+16889_-463+16922del
XM_011524439.2:c.539_572del (NAGS)	XP_011522741.1:p.His180ArgfsTer?
NM_153006.3:c.1037_1070del (NAGS) MANE Select	NP_694551.1:p.His346ArgfsTer?