Canonical Allele Identifier: CA2203673915

Gene: NAGPA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027959_5027960delinsCT , CM000678.2:g.5027959_5027960delinsCT	GRCh38
NC_000016.9:g.5077960_5077961delinsCT , CM000678.1:g.5077960_5077961delinsCT	GRCh37
NC_000016.8:g.5017961_5017962delinsCT	NCBI36
NG_028152.1:g.10982_10983delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1126+20_1126+21delinsAG MANE Select	ENSP00000310998.3:n.1126+20_1126+21delinsAG
ENST00000649828.1:c.*298+20_*298+21delinsAG	ENSP00000498032.1:n.*298+20_*298+21delinsAG
ENST00000312251.7:c.1126+20_1126+21delinsAG	ENSP00000310998.3:n.1126+20_1126+21delinsAG
ENST00000381955.7:c.1126+20_1126+21delinsAG	ENSP00000371381.3:n.1126+20_1126+21delinsAG
ENST00000562746.5:c.*298+20_*298+21delinsAG	ENSP00000455900.1:n.*298+20_*298+21delinsAG
ENST00000563578.5:c.738+920_738+921delinsAG
ENST00000564397.5:n.2179+20_2179+21delinsAG
ENST00000565876.5:c.481-581_481-580delinsAG
ENST00000566137.5:n.424+20_424+21delinsAG
ENST00000567739.5:n.445+20_445+21delinsAG
ENST00000568202.5:n.989+20_989+21delinsAG
ENST00000569296.5:c.739+20_739+21delinsAG	ENSP00000465949.1:n.739+20_739+21delinsAG
NM_016256.3:c.1126+20_1126+21delinsAG	NP_057340.2:n.1126+20_1126+21delinsAG
XM_011522517.1:c.1126+20_1126+21delinsAG	XP_011520819.1:n.1126+20_1126+21delinsAG
XR_243285.1:n.1222+20_1222+21delinsAG
XM_011522517.3:c.1126+20_1126+21delinsAG	XP_011520819.1:n.1126+20_1126+21delinsAG
XR_001751908.2:n.1221+20_1221+21delinsAG
XR_001751909.2:n.1225+20_1225+21delinsAG
XR_001751910.2:n.1254+20_1254+21delinsAG
XR_001751911.2:n.1254+20_1254+21delinsAG
XR_001751912.2:n.1258+20_1258+21delinsAG
NM_016256.4:c.1126+20_1126+21delinsAG MANE Select	NP_057340.2:n.1126+20_1126+21delinsAG