Canonical Allele Identifier: CA2631584448

Gene: NAGPA

Linked Data

• gnomAD v4: 16-5028747-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028747_5028748insA , CM000678.2:g.5028747_5028748insA	GRCh38
NC_000016.9:g.5078748_5078749insA , CM000678.1:g.5078748_5078749insA	GRCh37
NC_000016.8:g.5018749_5018750insA	NCBI36
NG_028152.1:g.10194_10195insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.920+132_920+133insT MANE Select	ENSP00000310998.3:n.920+132_920+133insT
ENST00000649828.1:c.920+132_920+133insT	ENSP00000498032.1:n.920+132_920+133insT
ENST00000312251.7:c.920+132_920+133insT	ENSP00000310998.3:n.920+132_920+133insT
ENST00000381955.7:c.920+132_920+133insT	ENSP00000371381.3:n.920+132_920+133insT
ENST00000562346.2:c.505-563_505-562insT
ENST00000562746.5:c.920+132_920+133insT	ENSP00000455900.1:n.920+132_920+133insT
ENST00000563578.5:c.738+132_738+133insT
ENST00000564397.5:n.1411_1412insT
ENST00000565876.5:c.481-1369_481-1368insT
ENST00000567739.5:n.239+132_239+133insT
ENST00000568202.5:n.783+132_783+133insT
ENST00000569296.5:c.464+132_464+133insT	ENSP00000465949.1:n.464+132_464+133insT
NM_016256.3:c.920+132_920+133insT	NP_057340.2:n.920+132_920+133insT
XM_011522517.1:c.920+132_920+133insT	XP_011520819.1:n.920+132_920+133insT
XM_011522518.1:c.920+132_920+133insT	XP_011520820.1:n.920+132_920+133insT
XM_011522519.1:c.920+132_920+133insT	XP_011520821.1:n.920+132_920+133insT
XR_243285.1:n.947+132_947+133insT
XM_011522517.3:c.920+132_920+133insT	XP_011520819.1:n.920+132_920+133insT
XR_001751908.2:n.946+132_946+133insT
XR_001751909.2:n.946+132_946+133insT
XR_001751910.2:n.946+132_946+133insT
XR_001751911.2:n.946+132_946+133insT
XR_001751912.2:n.946+132_946+133insT
NM_016256.4:c.920+132_920+133insT MANE Select	NP_057340.2:n.920+132_920+133insT