Canonical Allele Identifier: CA772278018

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs1203884514
• gnomAD v4: 17-44006479-GCAGT-G
• MyVariant Identifiers: chr17:g.42083848_42083851del (hg19) ; chr17:g.44006480_44006483del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006481_44006484del , CM000679.2:g.44006481_44006484del	GRCh38
NC_000017.10:g.42083849_42083852del , CM000679.1:g.42083849_42083852del	GRCh37
NC_000017.9:g.39439375_39439378del	NCBI36
NG_008106.1:g.6818_6821del
NG_023338.1:g.2987_2990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.916-48_916-45del (NAGS) MANE Select	ENSP00000293404.2:n.916-48_916-45del
ENST00000293404.7:c.916-48_916-45del (NAGS)	ENSP00000293404.2:n.916-48_916-45del
ENST00000589767.1:c.823-48_823-45del (NAGS)	ENSP00000465408.1:n.823-48_823-45del
ENST00000592915.1:n.191-48_191-45del (NAGS)
NM_153006.2:c.916-48_916-45del (NAGS)	NP_694551.1:n.916-48_916-45del
XM_011524438.1:c.916-48_916-45del (NAGS)	XP_011522740.1:n.916-48_916-45del
XM_011524439.1:c.418-48_418-45del (NAGS)	XP_011522741.1:n.418-48_418-45del
XM_011525035.1:c.-463+17089_-463+17092del (PYY)	XP_011523337.1:n.-463+17089_-463+17092del
XM_011524439.2:c.418-48_418-45del (NAGS)	XP_011522741.1:n.418-48_418-45del
NM_153006.3:c.916-48_916-45del (NAGS) MANE Select	NP_694551.1:n.916-48_916-45del