Canonical Allele Identifier: CA290853032

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs896090140
• gnomAD v3: 17-44006451-GAA-G
• gnomAD v4: 17-44006451-GAA-G
• MyVariant Identifiers: chr17:g.42083820_42083821del (hg19) ; chr17:g.44006452_44006453del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006454_44006455del , CM000679.2:g.44006454_44006455del	GRCh38
NC_000017.10:g.42083822_42083823del , CM000679.1:g.42083822_42083823del	GRCh37
NC_000017.9:g.39439348_39439349del	NCBI36
NG_008106.1:g.6791_6792del
NG_023338.1:g.3017_3018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.916-75_916-74del (NAGS) MANE Select	ENSP00000293404.2:n.916-75_916-74del
ENST00000293404.7:c.916-75_916-74del (NAGS)	ENSP00000293404.2:n.916-75_916-74del
ENST00000589767.1:c.823-75_823-74del (NAGS)	ENSP00000465408.1:n.823-75_823-74del
ENST00000592915.1:n.191-75_191-74del (NAGS)
NM_153006.2:c.916-75_916-74del (NAGS)	NP_694551.1:n.916-75_916-74del
XM_011524438.1:c.916-75_916-74del (NAGS)	XP_011522740.1:n.916-75_916-74del
XM_011524439.1:c.418-75_418-74del (NAGS)	XP_011522741.1:n.418-75_418-74del
XM_011525035.1:c.-463+17119_-463+17120del (PYY)	XP_011523337.1:n.-463+17119_-463+17120del
XM_011524439.2:c.418-75_418-74del (NAGS)	XP_011522741.1:n.418-75_418-74del
NM_153006.3:c.916-75_916-74del (NAGS) MANE Select	NP_694551.1:n.916-75_916-74del