Canonical Allele Identifier: CA2203660059

Gene: NAGPA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028881_5028886delinsAGTGAT , CM000678.2:g.5028881_5028886delinsAGTGAT	GRCh38
NC_000016.9:g.5078882_5078887delinsAGTGAT , CM000678.1:g.5078882_5078887delinsAGTGAT	GRCh37
NC_000016.8:g.5018883_5018888delinsAGTGAT	NCBI36
NG_028152.1:g.10056_10061delinsATCACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.914_919delinsATCACT MANE Select	ENSP00000310998.3:p.Asp305=
ENST00000649828.1:c.914_919delinsATCACT	ENSP00000498032.1:p.Asp305=
ENST00000312251.7:c.914_919delinsATCACT	ENSP00000310998.3:p.Asp305=
ENST00000381955.7:c.914_919delinsATCACT	ENSP00000371381.3:p.Asp305=
ENST00000562346.2:c.505-701_505-696delinsATCACT
ENST00000562746.5:c.914_919delinsATCACT	ENSP00000455900.1:p.Asp305=
ENST00000563578.5:c.732_737delinsATCACT
ENST00000564397.5:n.1273_1278delinsATCACT
ENST00000565876.5:c.480+1499_481-1502delinsATCACT
ENST00000567739.5:n.233_238delinsATCACT
ENST00000568202.5:n.777_782delinsATCACT
ENST00000569296.5:c.458_463delinsATCACT	ENSP00000465949.1:p.Asp153=
NM_016256.3:c.914_919delinsATCACT	NP_057340.2:p.Asp305=
XM_011522517.1:c.914_919delinsATCACT	XP_011520819.1:p.Asp305=
XM_011522518.1:c.914_919delinsATCACT	XP_011520820.1:p.Asp305=
XM_011522519.1:c.914_919delinsATCACT	XP_011520821.1:p.Asp305=
XR_243285.1:n.941_946delinsATCACT
XM_011522517.3:c.914_919delinsATCACT	XP_011520819.1:p.Asp305=
XR_001751908.2:n.940_945delinsATCACT
XR_001751909.2:n.940_945delinsATCACT
XR_001751910.2:n.940_945delinsATCACT
XR_001751911.2:n.940_945delinsATCACT
XR_001751912.2:n.940_945delinsATCACT
NM_016256.4:c.914_919delinsATCACT MANE Select	NP_057340.2:p.Asp305=