Canonical Allele Identifier: CA8595355

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs752030746
• ExAC: 17:42084893 T / TG
• gnomAD v3: 17-44007525-T-TG
• gnomAD v4: 17-44007525-T-TG
• MyVariant Identifiers: chr17:g.42084894_42084895insG (hg19) ; chr17:g.42084893_42084894insG (hg19) ; chr17:g.44007525_44007526insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007531dup , CM000679.2:g.44007531dup	GRCh38
NC_000017.10:g.42084899dup , CM000679.1:g.42084899dup	GRCh37
NC_000017.9:g.39440425dup	NCBI36
NG_008106.1:g.7868dup
NG_023338.1:g.1944dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000293404.8:c.1268+37dup (NAGS) MANE Select	ENSP00000293404.2:n.1268+37dup
ENST00000293404.7:c.1268+37dup (NAGS)	ENSP00000293404.2:n.1268+37dup
ENST00000589767.1:c.1176-36dup (NAGS)	ENSP00000465408.1:n.1176-36dup
ENST00000592915.1:n.1156+37dup (NAGS)
NM_153006.2:c.1268+37dup (NAGS)	NP_694551.1:n.1268+37dup
XM_011524438.1:c.1268+37dup (NAGS)	XP_011522740.1:n.1268+37dup
XM_011524439.1:c.770+37dup (NAGS)	XP_011522741.1:n.770+37dup
XM_011525035.1:c.-463+16046dup (PYY)	XP_011523337.1:n.-463+16046dup
XM_011524439.2:c.770+37dup (NAGS)	XP_011522741.1:n.770+37dup
NM_153006.3:c.1268+37dup (NAGS) MANE Select	NP_694551.1:n.1268+37dup