Canonical Allele Identifier: CA645575605

Gene: NAGPA

Linked Data

• COSMIC: COSM5016504

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028920_5028924del , CM000678.2:g.5028920_5028924del	GRCh38
NC_000016.9:g.5078921_5078925del , CM000678.1:g.5078921_5078925del	GRCh37
NC_000016.8:g.5018922_5018926del	NCBI36
NG_028152.1:g.10018_10022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.876_880del MANE Select	ENSP00000310998.3:p.Phe293AlafsTer?
ENST00000649828.1:c.876_880del	ENSP00000498032.1:p.Phe293AlafsTer?
ENST00000312251.7:c.876_880del	ENSP00000310998.3:p.Phe293AlafsTer?
ENST00000381955.7:c.876_880del	ENSP00000371381.3:p.Phe293AlafsTer?
ENST00000562346.2:c.505-739_505-735del
ENST00000562746.5:c.876_880del	ENSP00000455900.1:p.Phe293AlafsTer?
ENST00000563578.5:c.694_698del
ENST00000564397.5:n.1235_1239del
ENST00000565876.5:c.480+1461_480+1465del
ENST00000567739.5:n.195_199del
ENST00000568202.5:n.739_743del
ENST00000569296.5:c.420_424del	ENSP00000465949.1:p.Phe141AlafsTer?
NM_016256.3:c.876_880del	NP_057340.2:p.Phe293AlafsTer?
XM_011522517.1:c.876_880del	XP_011520819.1:p.Phe293AlafsTer?
XM_011522518.1:c.876_880del	XP_011520820.1:p.Phe293AlafsTer?
XM_011522519.1:c.876_880del	XP_011520821.1:p.Phe293AlafsTer?
XR_243285.1:n.903_907del
XM_011522517.3:c.876_880del	XP_011520819.1:p.Phe293AlafsTer?
XR_001751908.2:n.902_906del
XR_001751909.2:n.902_906del
XR_001751910.2:n.902_906del
XR_001751911.2:n.902_906del
XR_001751912.2:n.902_906del
NM_016256.4:c.876_880del MANE Select	NP_057340.2:p.Phe293AlafsTer?