Canonical Allele Identifier: CA2203673997

Gene: NAGPA

Linked Data

• dbSNP Id: rs1956033924

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027990_5027991del , CM000678.2:g.5027990_5027991del	GRCh38
NC_000016.9:g.5077991_5077992del , CM000678.1:g.5077991_5077992del	GRCh37
NC_000016.8:g.5017992_5017993del	NCBI36
NG_028152.1:g.10953_10954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1117_1118del MANE Select	ENSP00000310998.3:p.Cys373HisfsTer8
ENST00000649828.1:c.*289_*290del	ENSP00000498032.1:n.*289_*290del
ENST00000312251.7:c.1117_1118del	ENSP00000310998.3:p.Cys373HisfsTer8
ENST00000381955.7:c.1117_1118del	ENSP00000371381.3:p.Cys373HisfsTer8
ENST00000562746.5:c.*289_*290del	ENSP00000455900.1:n.*289_*290del
ENST00000563578.5:c.738+891_738+892del
ENST00000564397.5:n.2170_2171del
ENST00000565876.5:c.481-610_481-609del
ENST00000566137.5:n.415_416del
ENST00000567739.5:n.436_437del
ENST00000568202.5:n.980_981del
ENST00000569296.5:c.730_731del	ENSP00000465949.1:n.730_731del
NM_016256.3:c.1117_1118del	NP_057340.2:p.Cys373HisfsTer8
XM_011522517.1:c.1117_1118del	XP_011520819.1:p.Cys373HisfsTer8
XR_243285.1:n.1213_1214del
XM_011522517.3:c.1117_1118del	XP_011520819.1:p.Cys373HisfsTer8
XR_001751908.2:n.1212_1213del
XR_001751909.2:n.1216_1217del
XR_001751910.2:n.1245_1246del
XR_001751911.2:n.1245_1246del
XR_001751912.2:n.1249_1250del
NM_016256.4:c.1117_1118del MANE Select	NP_057340.2:p.Cys373HisfsTer8