Canonical Allele Identifier: CA8595256

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 1108091
• ClinVar RCV Id: RCV001433440
• dbSNP Id: rs745844473
• ExAC: 17:42083611 G / GAA
• gnomAD v2: 17-42083611-G-GAA
• gnomAD v4: 17-44006243-G-GAA
• MyVariant Identifiers: chr17:g.42083611_42083612insAA (hg19) ; chr17:g.44006243_44006244insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006243_44006244insAA , CM000679.2:g.44006243_44006244insAA	GRCh38
NC_000017.10:g.42083611_42083612insAA , CM000679.1:g.42083611_42083612insAA	GRCh37
NC_000017.9:g.39439137_39439138insAA	NCBI36
NG_008106.1:g.6580_6581insAA
NG_023338.1:g.3226_3227insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.915+6_915+7insAA (NAGS) MANE Select	ENSP00000293404.2:n.915+6_915+7insAA
ENST00000293404.7:c.915+6_915+7insAA (NAGS)	ENSP00000293404.2:n.915+6_915+7insAA
ENST00000589767.1:c.822+6_822+7insAA (NAGS)	ENSP00000465408.1:n.822+6_822+7insAA
ENST00000592915.1:n.190+6_190+7insAA (NAGS)
NM_153006.2:c.915+6_915+7insAA (NAGS)	NP_694551.1:n.915+6_915+7insAA
XM_011524438.1:c.915+6_915+7insAA (NAGS)	XP_011522740.1:n.915+6_915+7insAA
XM_011524439.1:c.417+6_417+7insAA (NAGS)	XP_011522741.1:n.417+6_417+7insAA
XM_011525035.1:c.-463+17328_-463+17329insTT (PYY)	XP_011523337.1:n.-463+17328_-463+17329insTT
XM_011524439.2:c.417+6_417+7insAA (NAGS)	XP_011522741.1:n.417+6_417+7insAA
NM_153006.3:c.915+6_915+7insAA (NAGS) MANE Select	NP_694551.1:n.915+6_915+7insAA