Canonical Allele Identifier: CA626222676

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs1249136568
• gnomAD v2: 17-42083938-GT-G
• gnomAD v4: 17-44006570-GT-G
• MyVariant Identifiers: chr17:g.42083939del (hg19) ; chr17:g.44006571del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006571del , CM000679.2:g.44006571del	GRCh38
NC_000017.10:g.42083939del , CM000679.1:g.42083939del	GRCh37
NC_000017.9:g.39439465del	NCBI36
NG_008106.1:g.6908del
NG_023338.1:g.2899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.958del (NAGS) MANE Select	ENSP00000293404.2:p.Cys320AlafsTer6
ENST00000293404.7:c.958del (NAGS)	ENSP00000293404.2:p.Cys320AlafsTer6
ENST00000589767.1:c.865del (NAGS)	ENSP00000465408.1:p.Cys289AlafsTer6
ENST00000592915.1:n.233del (NAGS)
NM_153006.2:c.958del (NAGS)	NP_694551.1:p.Cys320AlafsTer6
XM_011524438.1:c.958del (NAGS)	XP_011522740.1:p.Cys320AlafsTer6
XM_011524439.1:c.460del (NAGS)	XP_011522741.1:p.Cys154AlafsTer6
XM_011525035.1:c.-463+17001del (PYY)	XP_011523337.1:n.-463+17001del
XM_011524439.2:c.460del (NAGS)	XP_011522741.1:p.Cys154AlafsTer6
NM_153006.3:c.958del (NAGS) MANE Select	NP_694551.1:p.Cys320AlafsTer6