Canonical Allele Identifier: CA2631583597

Gene: NAGPA

Linked Data

• gnomAD v4: 16-5027960-T-TCCCCCCCACCCCCCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027964_5027965insCCCACCCCCCCCCCCCCCCCCCCCCCC , CM000678.2:g.5027964_5027965insCCCACCCCCCCCCCCCCCCCCCCCCCC	GRCh38
NC_000016.9:g.5077965_5077966insCCCACCCCCCCCCCCCCCCCCCCCCCC , CM000678.1:g.5077965_5077966insCCCACCCCCCCCCCCCCCCCCCCCCCC	GRCh37
NC_000016.8:g.5017966_5017967insCCCACCCCCCCCCCCCCCCCCCCCCCC	NCBI36
NG_028152.1:g.10981_10982insGGGGGGGGGGGGGGGGGGGTGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1126+19_1126+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG MANE Select	ENSP00000310998.3:n.1126+19_1126+20insGGGGGGGGGGGGGGGGGGGTGGG...
ENST00000649828.1:c.*298+19_*298+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG	ENSP00000498032.1:n.*298+19_*298+20insGGGGGGGGGGGGGGGGGGGTGGG...
ENST00000312251.7:c.1126+19_1126+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG	ENSP00000310998.3:n.1126+19_1126+20insGGGGGGGGGGGGGGGGGGGTGGG...
ENST00000381955.7:c.1126+19_1126+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG	ENSP00000371381.3:n.1126+19_1126+20insGGGGGGGGGGGGGGGGGGGTGGG...
ENST00000562746.5:c.*298+19_*298+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG	ENSP00000455900.1:n.*298+19_*298+20insGGGGGGGGGGGGGGGGGGGTGGG...
ENST00000563578.5:c.738+919_738+920insGGGGGGGGGGGGGGGGGGGTGGGGGGG
ENST00000564397.5:n.2179+19_2179+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG
ENST00000565876.5:c.481-582_481-581insGGGGGGGGGGGGGGGGGGGTGGGGGGG
ENST00000566137.5:n.424+19_424+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG
ENST00000567739.5:n.445+19_445+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG
ENST00000568202.5:n.989+19_989+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG
ENST00000569296.5:c.739+19_739+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG	ENSP00000465949.1:n.739+19_739+20insGGGGGGGGGGGGGGGGGGGTGGGGG...
NM_016256.3:c.1126+19_1126+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG	NP_057340.2:n.1126+19_1126+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG
XM_011522517.1:c.1126+19_1126+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG	XP_011520819.1:n.1126+19_1126+20insGGGGGGGGGGGGGGGGGGGTGGGGGG...
XR_243285.1:n.1222+19_1222+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG
XM_011522517.3:c.1126+19_1126+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG	XP_011520819.1:n.1126+19_1126+20insGGGGGGGGGGGGGGGGGGGTGGGGGG...
XR_001751908.2:n.1221+19_1221+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG
XR_001751909.2:n.1225+19_1225+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG
XR_001751910.2:n.1254+19_1254+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG
XR_001751911.2:n.1254+19_1254+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG
XR_001751912.2:n.1258+19_1258+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG
NM_016256.4:c.1126+19_1126+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG MANE Select	NP_057340.2:n.1126+19_1126+20insGGGGGGGGGGGGGGGGGGGTGGGGGGG