Canonical Allele Identifier: CA2631583618

Gene: NAGPA

Linked Data

• gnomAD v4: 16-5027978-A-ACCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027979_5027980insCCCCCCCCCCC , CM000678.2:g.5027979_5027980insCCCCCCCCCCC	GRCh38
NC_000016.9:g.5077980_5077981insCCCCCCCCCCC , CM000678.1:g.5077980_5077981insCCCCCCCCCCC	GRCh37
NC_000016.8:g.5017981_5017982insCCCCCCCCCCC	NCBI36
NG_028152.1:g.10963_10964insGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1126+1_1126+2insGGGGGGGGGGG MANE Select	ENSP00000310998.3:n.1126+1_1126+2insGGGGGGGGGGG
ENST00000649828.1:c.*298+1_*298+2insGGGGGGGGGGG	ENSP00000498032.1:n.*298+1_*298+2insGGGGGGGGGGG
ENST00000312251.7:c.1126+1_1126+2insGGGGGGGGGGG	ENSP00000310998.3:n.1126+1_1126+2insGGGGGGGGGGG
ENST00000381955.7:c.1126+1_1126+2insGGGGGGGGGGG	ENSP00000371381.3:n.1126+1_1126+2insGGGGGGGGGGG
ENST00000562746.5:c.*298+1_*298+2insGGGGGGGGGGG	ENSP00000455900.1:n.*298+1_*298+2insGGGGGGGGGGG
ENST00000563578.5:c.738+901_738+902insGGGGGGGGGGG
ENST00000564397.5:n.2179+1_2179+2insGGGGGGGGGGG
ENST00000565876.5:c.481-600_481-599insGGGGGGGGGGG
ENST00000566137.5:n.424+1_424+2insGGGGGGGGGGG
ENST00000567739.5:n.445+1_445+2insGGGGGGGGGGG
ENST00000568202.5:n.989+1_989+2insGGGGGGGGGGG
ENST00000569296.5:c.739+1_739+2insGGGGGGGGGGG	ENSP00000465949.1:n.739+1_739+2insGGGGGGGGGGG
NM_016256.3:c.1126+1_1126+2insGGGGGGGGGGG	NP_057340.2:n.1126+1_1126+2insGGGGGGGGGGG
XM_011522517.1:c.1126+1_1126+2insGGGGGGGGGGG	XP_011520819.1:n.1126+1_1126+2insGGGGGGGGGGG
XR_243285.1:n.1222+1_1222+2insGGGGGGGGGGG
XM_011522517.3:c.1126+1_1126+2insGGGGGGGGGGG	XP_011520819.1:n.1126+1_1126+2insGGGGGGGGGGG
XR_001751908.2:n.1221+1_1221+2insGGGGGGGGGGG
XR_001751909.2:n.1225+1_1225+2insGGGGGGGGGGG
XR_001751910.2:n.1254+1_1254+2insGGGGGGGGGGG
XR_001751911.2:n.1254+1_1254+2insGGGGGGGGGGG
XR_001751912.2:n.1258+1_1258+2insGGGGGGGGGGG
NM_016256.4:c.1126+1_1126+2insGGGGGGGGGGG MANE Select	NP_057340.2:n.1126+1_1126+2insGGGGGGGGGGG