Canonical Allele Identifier: CA626222737

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 2831025
• ClinVar RCV Id: RCV003604459
• dbSNP Id: rs1162063479
• gnomAD v2: 17-42084679-ATCC-A
• gnomAD v4: 17-44007311-ATCC-A
• MyVariant Identifiers: chr17:g.42084680_42084682del (hg19) ; chr17:g.44007312_44007314del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007318_44007320del , CM000679.2:g.44007318_44007320del	GRCh38
NC_000017.10:g.42084686_42084688del , CM000679.1:g.42084686_42084688del	GRCh37
NC_000017.9:g.39440212_39440214del	NCBI36
NG_008106.1:g.7655_7657del
NG_023338.1:g.2156_2158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1097-5_1097-3del (NAGS) MANE Select	ENSP00000293404.2:n.1097-5_1097-3del
ENST00000293404.7:c.1097-5_1097-3del (NAGS)	ENSP00000293404.2:n.1097-5_1097-3del
ENST00000589767.1:c.1004-5_1004-3del (NAGS)	ENSP00000465408.1:n.1004-5_1004-3del
ENST00000592915.1:n.980_982del (NAGS)
NM_153006.2:c.1097-5_1097-3del (NAGS)	NP_694551.1:n.1097-5_1097-3del
XM_011524438.1:c.1097-5_1097-3del (NAGS)	XP_011522740.1:n.1097-5_1097-3del
XM_011524439.1:c.599-5_599-3del (NAGS)	XP_011522741.1:n.599-5_599-3del
XM_011525035.1:c.-463+16258_-463+16260del (PYY)	XP_011523337.1:n.-463+16258_-463+16260del
XM_011524439.2:c.599-5_599-3del (NAGS)	XP_011522741.1:n.599-5_599-3del
NM_153006.3:c.1097-5_1097-3del (NAGS) MANE Select	NP_694551.1:n.1097-5_1097-3del