Canonical Allele Identifier: CA772277992

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs1427899697
• gnomAD v3: 17-44006454-AAG-A
• gnomAD v4: 17-44006454-AAG-A
• MyVariant Identifiers: chr17:g.42083823_42083824del (hg19) ; chr17:g.44006455_44006456del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006459_44006460del , CM000679.2:g.44006459_44006460del	GRCh38
NC_000017.10:g.42083827_42083828del , CM000679.1:g.42083827_42083828del	GRCh37
NC_000017.9:g.39439353_39439354del	NCBI36
NG_008106.1:g.6796_6797del
NG_023338.1:g.3014_3015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.916-70_916-69del (NAGS) MANE Select	ENSP00000293404.2:n.916-70_916-69del
ENST00000293404.7:c.916-70_916-69del (NAGS)	ENSP00000293404.2:n.916-70_916-69del
ENST00000589767.1:c.823-70_823-69del (NAGS)	ENSP00000465408.1:n.823-70_823-69del
ENST00000592915.1:n.191-70_191-69del (NAGS)
NM_153006.2:c.916-70_916-69del (NAGS)	NP_694551.1:n.916-70_916-69del
XM_011524438.1:c.916-70_916-69del (NAGS)	XP_011522740.1:n.916-70_916-69del
XM_011524439.1:c.418-70_418-69del (NAGS)	XP_011522741.1:n.418-70_418-69del
XM_011525035.1:c.-463+17116_-463+17117del (PYY)	XP_011523337.1:n.-463+17116_-463+17117del
XM_011524439.2:c.418-70_418-69del (NAGS)	XP_011522741.1:n.418-70_418-69del
NM_153006.3:c.916-70_916-69del (NAGS) MANE Select	NP_694551.1:n.916-70_916-69del