Canonical Allele Identifier: CA399726439

Gene: NAGS PYY

Linked Data

• MyVariant Identifiers: chr17:g.44006662_44006668del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006662_44006668del , CM000679.2:g.44006662_44006668del	GRCh38
NC_000017.10:g.42084030_42084036del , CM000679.1:g.42084030_42084036del	GRCh37
NC_000017.9:g.39439556_39439562del	NCBI36
NG_008106.1:g.6999_7005del
NG_023338.1:g.2802_2808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1049_1055del (NAGS) MANE Select	ENSP00000293404.2:p.Val350AlafsTer?
ENST00000293404.7:c.1049_1055del (NAGS)	ENSP00000293404.2:p.Val350AlafsTer?
ENST00000589767.1:c.956_962del (NAGS)	ENSP00000465408.1:p.Val319AlafsTer?
ENST00000592915.1:n.324_330del (NAGS)
NM_153006.2:c.1049_1055del (NAGS)	NP_694551.1:p.Val350AlafsTer?
XM_011524438.1:c.1049_1055del (NAGS)	XP_011522740.1:p.Val350AlafsTer?
XM_011524439.1:c.551_557del (NAGS)	XP_011522741.1:p.Val184AlafsTer?
XM_011525035.1:c.-463+16904_-463+16910del (PYY)	XP_011523337.1:n.-463+16904_-463+16910del
XM_011524439.2:c.551_557del (NAGS)	XP_011522741.1:p.Val184AlafsTer?
NM_153006.3:c.1049_1055del (NAGS) MANE Select	NP_694551.1:p.Val350AlafsTer?