Canonical Allele Identifier: CA2638146955

Gene: NAGS PYY

Linked Data

• gnomAD v4: 17-44006663-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006664_44006665del , CM000679.2:g.44006664_44006665del	GRCh38
NC_000017.10:g.42084032_42084033del , CM000679.1:g.42084032_42084033del	GRCh37
NC_000017.9:g.39439558_39439559del	NCBI36
NG_008106.1:g.7001_7002del
NG_023338.1:g.2805_2806del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1051_1052del (NAGS) MANE Select	ENSP00000293404.2:p.Ile351HisfsTer4
ENST00000293404.7:c.1051_1052del (NAGS)	ENSP00000293404.2:p.Ile351HisfsTer4
ENST00000589767.1:c.958_959del (NAGS)	ENSP00000465408.1:p.Ile320HisfsTer4
ENST00000592915.1:n.326_327del (NAGS)
NM_153006.2:c.1051_1052del (NAGS)	NP_694551.1:p.Ile351HisfsTer4
XM_011524438.1:c.1051_1052del (NAGS)	XP_011522740.1:p.Ile351HisfsTer4
XM_011524439.1:c.553_554del (NAGS)	XP_011522741.1:p.Ile185HisfsTer4
XM_011525035.1:c.-463+16907_-463+16908del (PYY)	XP_011523337.1:n.-463+16907_-463+16908del
XM_011524439.2:c.553_554del (NAGS)	XP_011522741.1:p.Ile185HisfsTer4
NM_153006.3:c.1051_1052del (NAGS) MANE Select	NP_694551.1:p.Ile351HisfsTer4