Canonical Allele Identifier: CA2695200255

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 2676918
• ClinVar RCV Id: RCV003470288

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006711_44006716del , CM000679.2:g.44006711_44006716del	GRCh38
NC_000017.10:g.42084079_42084084del , CM000679.1:g.42084079_42084084del	GRCh37
NC_000017.9:g.39439605_39439610del	NCBI36
NG_008106.1:g.7048_7053del
NG_023338.1:g.2758_2763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1096+2_1096+7del (NAGS)
ENST00000293404.7:c.1096+2_1096+7del (NAGS)
ENST00000589767.1:c.1003+2_1003+7del (NAGS)
ENST00000592915.1:n.373_378del (NAGS)
NM_153006.2:c.1096+2_1096+7del (NAGS)
XM_011524438.1:c.1096+2_1096+7del (NAGS)
XM_011524439.1:c.598+2_598+7del (NAGS)
XM_011525035.1:c.-463+16860_-463+16865del (PYY)	XP_011523337.1:n.-463+16860_-463+16865del
XM_011524439.2:c.598+2_598+7del (NAGS)
NM_153006.3:c.1096+2_1096+7del (NAGS)