Canonical Allele Identifier: CA772278245

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs1289071028
• gnomAD v3: 17-44006657-GGCC-G
• gnomAD v4: 17-44006657-GGCC-G
• MyVariant Identifiers: chr17:g.42084026_42084028del (hg19) ; chr17:g.44006658_44006660del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006659_44006661del , CM000679.2:g.44006659_44006661del	GRCh38
NC_000017.10:g.42084027_42084029del , CM000679.1:g.42084027_42084029del	GRCh37
NC_000017.9:g.39439553_39439555del	NCBI36
NG_008106.1:g.6996_6998del
NG_023338.1:g.2810_2812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1046_1048del (NAGS) MANE Select	ENSP00000293404.2:p.Ala349del
ENST00000293404.7:c.1046_1048del (NAGS)	ENSP00000293404.2:p.Ala349del
ENST00000589767.1:c.953_955del (NAGS)	ENSP00000465408.1:p.Ala318del
ENST00000592915.1:n.321_323del (NAGS)
NM_153006.2:c.1046_1048del (NAGS)	NP_694551.1:p.Ala349del
XM_011524438.1:c.1046_1048del (NAGS)	XP_011522740.1:p.Ala349del
XM_011524439.1:c.548_550del (NAGS)	XP_011522741.1:p.Ala183del
XM_011525035.1:c.-463+16912_-463+16914del (PYY)	XP_011523337.1:n.-463+16912_-463+16914del
XM_011524439.2:c.548_550del (NAGS)	XP_011522741.1:p.Ala183del
NM_153006.3:c.1046_1048del (NAGS) MANE Select	NP_694551.1:p.Ala349del