Canonical Allele Identifier: CA8595265

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs775373928
• ExAC: 17:42083647 GGCCTTCTCTTGC / G
• gnomAD v2: 17-42083647-GGCCTTCTCTTGC-G
• gnomAD v3: 17-44006279-GGCCTTCTCTTGC-G
• gnomAD v4: 17-44006279-GGCCTTCTCTTGC-G
• MyVariant Identifiers: chr17:g.42083648_42083659del (hg19) ; chr17:g.44006280_44006291del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006283_44006294del , CM000679.2:g.44006283_44006294del	GRCh38
NC_000017.10:g.42083651_42083662del , CM000679.1:g.42083651_42083662del	GRCh37
NC_000017.9:g.39439177_39439188del	NCBI36
NG_008106.1:g.6620_6631del
NG_023338.1:g.3179_3190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.915+46_915+57del (NAGS) MANE Select	ENSP00000293404.2:n.915+46_915+57del
ENST00000293404.7:c.915+46_915+57del (NAGS)	ENSP00000293404.2:n.915+46_915+57del
ENST00000589767.1:c.822+46_822+57del (NAGS)	ENSP00000465408.1:n.822+46_822+57del
ENST00000592915.1:n.190+46_190+57del (NAGS)
NM_153006.2:c.915+46_915+57del (NAGS)	NP_694551.1:n.915+46_915+57del
XM_011524438.1:c.915+46_915+57del (NAGS)	XP_011522740.1:n.915+46_915+57del
XM_011524439.1:c.417+46_417+57del (NAGS)	XP_011522741.1:n.417+46_417+57del
XM_011525035.1:c.-463+17281_-463+17292del (PYY)	XP_011523337.1:n.-463+17281_-463+17292del
XM_011524439.2:c.417+46_417+57del (NAGS)	XP_011522741.1:n.417+46_417+57del
NM_153006.3:c.915+46_915+57del (NAGS) MANE Select	NP_694551.1:n.915+46_915+57del