Canonical Allele Identifier: CA2999021923

Gene: NAGPA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028889dup , CM000678.2:g.5028889dup	GRCh38
NC_000016.9:g.5078890dup , CM000678.1:g.5078890dup	GRCh37
NC_000016.8:g.5018891dup	NCBI36
NG_028152.1:g.10053dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.911dup MANE Select	ENSP00000310998.3:p.Asp305ArgfsTer29
ENST00000649828.1:c.911dup	ENSP00000498032.1:p.Asp305ArgfsTer?
ENST00000312251.7:c.911dup	ENSP00000310998.3:p.Asp305ArgfsTer29
ENST00000381955.7:c.911dup	ENSP00000371381.3:p.Asp305ArgfsTer29
ENST00000562346.2:c.505-704dup
ENST00000562746.5:c.911dup	ENSP00000455900.1:p.Asp305ArgfsTer?
ENST00000563578.5:c.729dup
ENST00000564397.5:n.1270dup
ENST00000565876.5:c.480+1496dup
ENST00000567739.5:n.230dup
ENST00000568202.5:n.774dup
ENST00000569296.5:c.455dup	ENSP00000465949.1:p.Asp153ArgfsTer20
NM_016256.3:c.911dup	NP_057340.2:p.Asp305ArgfsTer29
XM_011522517.1:c.911dup	XP_011520819.1:p.Asp305ArgfsTer29
XM_011522518.1:c.911dup	XP_011520820.1:p.Asp305ArgfsTer20
XM_011522519.1:c.911dup	XP_011520821.1:p.Asp305ArgfsTer?
XR_243285.1:n.938dup
XM_011522517.3:c.911dup	XP_011520819.1:p.Asp305ArgfsTer29
XR_001751908.2:n.937dup
XR_001751909.2:n.937dup
XR_001751910.2:n.937dup
XR_001751911.2:n.937dup
XR_001751912.2:n.937dup
NM_016256.4:c.911dup MANE Select	NP_057340.2:p.Asp305ArgfsTer29