Canonical Allele Identifier: CA2805664230

Gene: NAGPA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027959dup , CM000678.2:g.5027959dup	GRCh38
NC_000016.9:g.5077960dup , CM000678.1:g.5077960dup	GRCh37
NC_000016.8:g.5017961dup	NCBI36
NG_028152.1:g.10987dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1126+25dup MANE Select	ENSP00000310998.3:n.1126+25dup
ENST00000649828.1:c.*298+25dup	ENSP00000498032.1:n.*298+25dup
ENST00000312251.7:c.1126+25dup	ENSP00000310998.3:n.1126+25dup
ENST00000381955.7:c.1126+25dup	ENSP00000371381.3:n.1126+25dup
ENST00000562746.5:c.*298+25dup	ENSP00000455900.1:n.*298+25dup
ENST00000563578.5:c.738+925dup
ENST00000564397.5:n.2179+25dup
ENST00000565876.5:c.481-576dup
ENST00000566137.5:n.424+25dup
ENST00000567739.5:n.445+25dup
ENST00000568202.5:n.989+25dup
ENST00000569296.5:c.739+25dup	ENSP00000465949.1:n.739+25dup
NM_016256.3:c.1126+25dup	NP_057340.2:n.1126+25dup
XM_011522517.1:c.1126+25dup	XP_011520819.1:n.1126+25dup
XR_243285.1:n.1222+25dup
XM_011522517.3:c.1126+25dup	XP_011520819.1:n.1126+25dup
XR_001751908.2:n.1221+25dup
XR_001751909.2:n.1225+25dup
XR_001751910.2:n.1254+25dup
XR_001751911.2:n.1254+25dup
XR_001751912.2:n.1258+25dup
NM_016256.4:c.1126+25dup MANE Select	NP_057340.2:n.1126+25dup