Canonical Allele Identifier: CA2739267562

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 2863999
• ClinVar RCV Id: RCV003602573

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006611_44006629del , CM000679.2:g.44006611_44006629del	GRCh38
NC_000017.10:g.42083979_42083997del , CM000679.1:g.42083979_42083997del	GRCh37
NC_000017.9:g.39439505_39439523del	NCBI36
NG_008106.1:g.6948_6966del
NG_023338.1:g.2841_2859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.998_1016del (NAGS) MANE Select	ENSP00000293404.2:p.Met333SerfsTer?
ENST00000293404.7:c.998_1016del (NAGS)	ENSP00000293404.2:p.Met333SerfsTer?
ENST00000589767.1:c.905_923del (NAGS)	ENSP00000465408.1:p.Met302SerfsTer?
ENST00000592915.1:n.273_291del (NAGS)
NM_153006.2:c.998_1016del (NAGS)	NP_694551.1:p.Met333SerfsTer?
XM_011524438.1:c.998_1016del (NAGS)	XP_011522740.1:p.Met333SerfsTer?
XM_011524439.1:c.500_518del (NAGS)	XP_011522741.1:p.Met167SerfsTer?
XM_011525035.1:c.-463+16943_-463+16961del (PYY)	XP_011523337.1:n.-463+16943_-463+16961del
XM_011524439.2:c.500_518del (NAGS)	XP_011522741.1:p.Met167SerfsTer?
NM_153006.3:c.998_1016del (NAGS) MANE Select	NP_694551.1:p.Met333SerfsTer?