Canonical Allele Identifier: CA2203673569

Gene: NAGPA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027720_5027721delinsGC , CM000678.2:g.5027720_5027721delinsGC	GRCh38
NC_000016.9:g.5077721_5077722delinsGC , CM000678.1:g.5077721_5077722delinsGC	GRCh37
NC_000016.8:g.5017722_5017723delinsGC	NCBI36
NG_028152.1:g.11221_11222delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1174+125_1174+126delinsGC MANE Select	ENSP00000310998.3:n.1174+125_1174+126delinsGC
ENST00000649828.1:c.*346+125_*346+126delinsGC	ENSP00000498032.1:n.*346+125_*346+126delinsGC
ENST00000312251.7:c.1174+125_1174+126delinsGC	ENSP00000310998.3:n.1174+125_1174+126delinsGC
ENST00000381955.7:c.1174+125_1174+126delinsGC	ENSP00000371381.3:n.1174+125_1174+126delinsGC
ENST00000562746.5:c.*346+125_*346+126delinsGC	ENSP00000455900.1:n.*346+125_*346+126delinsGC
ENST00000563578.5:c.738+1159_738+1160delinsGC
ENST00000564397.5:n.2227+125_2227+126delinsGC
ENST00000565876.5:c.481-342_481-341delinsGC
ENST00000566137.5:n.472+125_472+126delinsGC
ENST00000567739.5:n.493+125_493+126delinsGC
ENST00000568202.5:n.1037+125_1037+126delinsGC
ENST00000569296.5:c.787+125_787+126delinsGC	ENSP00000465949.1:n.787+125_787+126delinsGC
NM_016256.3:c.1174+125_1174+126delinsGC	NP_057340.2:n.1174+125_1174+126delinsGC
XM_011522517.1:c.1174+125_1174+126delinsGC	XP_011520819.1:n.1174+125_1174+126delinsGC
XR_243285.1:n.1270+125_1270+126delinsGC
XM_011522517.3:c.1174+125_1174+126delinsGC	XP_011520819.1:n.1174+125_1174+126delinsGC
XR_001751908.2:n.1269+125_1269+126delinsGC
XR_001751909.2:n.1273+125_1273+126delinsGC
XR_001751910.2:n.1302+125_1302+126delinsGC
XR_001751911.2:n.1302+125_1302+126delinsGC
XR_001751912.2:n.1306+125_1306+126delinsGC
NM_016256.4:c.1174+125_1174+126delinsGC MANE Select	NP_057340.2:n.1174+125_1174+126delinsGC