Canonical Allele Identifier: CA721281759

Gene: NAGPA

Linked Data

• dbSNP Id: rs1315513555
• MyVariant Identifiers: chr16:g.5078884_5078888del (hg19) ; chr16:g.5028883_5028887del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028886_5028890del , CM000678.2:g.5028886_5028890del	GRCh38
NC_000016.9:g.5078887_5078891del , CM000678.1:g.5078887_5078891del	GRCh37
NC_000016.8:g.5018888_5018892del	NCBI36
NG_028152.1:g.10055_10059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.913_917del MANE Select	ENSP00000310998.3:p.Asp305LeufsTer27
ENST00000649828.1:c.913_917del	ENSP00000498032.1:p.Asp305LeufsTer29
ENST00000312251.7:c.913_917del	ENSP00000310998.3:p.Asp305LeufsTer27
ENST00000381955.7:c.913_917del	ENSP00000371381.3:p.Asp305LeufsTer27
ENST00000562346.2:c.505-702_505-698del
ENST00000562746.5:c.913_917del	ENSP00000455900.1:p.Asp305LeufsTer29
ENST00000563578.5:c.731_735del
ENST00000564397.5:n.1272_1276del
ENST00000565876.5:c.480+1498_480+1502del
ENST00000567739.5:n.232_236del
ENST00000568202.5:n.776_780del
ENST00000569296.5:c.457_461del	ENSP00000465949.1:p.Asp153LeufsTer18
NM_016256.3:c.913_917del	NP_057340.2:p.Asp305LeufsTer27
XM_011522517.1:c.913_917del	XP_011520819.1:p.Asp305LeufsTer27
XM_011522518.1:c.913_917del	XP_011520820.1:p.Asp305LeufsTer18
XM_011522519.1:c.913_917del	XP_011520821.1:p.Asp305LeufsTer29
XR_243285.1:n.940_944del
XM_011522517.3:c.913_917del	XP_011520819.1:p.Asp305LeufsTer27
XR_001751908.2:n.939_943del
XR_001751909.2:n.939_943del
XR_001751910.2:n.939_943del
XR_001751911.2:n.939_943del
XR_001751912.2:n.939_943del
NM_016256.4:c.913_917del MANE Select	NP_057340.2:p.Asp305LeufsTer27