Canonical Allele Identifier: CA2203660388
Gene: NAGPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5029076_5029097delinsTCCACAGTGCAGAGCATCACGC , CM000678.2:g.5029076_5029097delinsTCCACAGTGCAGAGCATCACGC GRCh38
NC_000016.9:g.5079077_5079098delinsTCCACAGTGCAGAGCATCACGC , CM000678.1:g.5079077_5079098delinsTCCACAGTGCAGAGCATCACGC GRCh37
NC_000016.8:g.5019078_5019099delinsTCCACAGTGCAGAGCATCACGC NCBI36
NG_028152.1:g.9845_9866delinsGCGTGATGCTCTGCACTGTGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000312251.8:c.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA MANE Select ENSP00000310998.3:n.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA...
ENST00000649828.1:c.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA ENSP00000498032.1:n.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA...
ENST00000312251.7:c.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA ENSP00000310998.3:n.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA...
ENST00000381955.7:c.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA ENSP00000371381.3:n.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA...
ENST00000562037.1:c.553-89_553-68delinsGCGTGATGCTCTGCACTGTGGA ENSP00000464994.1:n.553-89_553-68delinsGCGTGATGCTCTGCACTGTGGA...
ENST00000562346.2:c.505-912_505-891delinsGCGTGATGCTCTGCACTGTGGA
ENST00000562746.5:c.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA ENSP00000455900.1:n.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA...
ENST00000563578.5:c.610-89_610-68delinsGCGTGATGCTCTGCACTGTGGA
ENST00000564397.5:n.1062_1083delinsGCGTGATGCTCTGCACTGTGGA
ENST00000565876.5:c.480+1288_480+1309delinsGCGTGATGCTCTGCACTGTGGA
ENST00000567739.5:n.22_43delinsGCGTGATGCTCTGCACTGTGGA
ENST00000568202.5:n.655-89_655-68delinsGCGTGATGCTCTGCACTGTGGA
ENST00000569296.5:c.336-89_336-68delinsGCGTGATGCTCTGCACTGTGGA ENSP00000465949.1:n.336-89_336-68delinsGCGTGATGCTCTGCACTGTGGA...
NM_016256.3:c.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA NP_057340.2:n.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA
XM_011522517.1:c.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA XP_011520819.1:n.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA
XM_011522518.1:c.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA XP_011520820.1:n.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA
XM_011522519.1:c.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA XP_011520821.1:n.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA
XR_243285.1:n.819-89_819-68delinsGCGTGATGCTCTGCACTGTGGA
XM_011522517.3:c.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA XP_011520819.1:n.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA
XR_001751908.2:n.818-89_818-68delinsGCGTGATGCTCTGCACTGTGGA
XR_001751909.2:n.818-89_818-68delinsGCGTGATGCTCTGCACTGTGGA
XR_001751910.2:n.818-89_818-68delinsGCGTGATGCTCTGCACTGTGGA
XR_001751911.2:n.818-89_818-68delinsGCGTGATGCTCTGCACTGTGGA
XR_001751912.2:n.818-89_818-68delinsGCGTGATGCTCTGCACTGTGGA
NM_016256.4:c.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA MANE Select NP_057340.2:n.792-89_792-68delinsGCGTGATGCTCTGCACTGTGGA