Canonical Allele Identifier: CA2805664225

Gene: NAGPA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027773_5027774dup , CM000678.2:g.5027773_5027774dup	GRCh38
NC_000016.9:g.5077774_5077775dup , CM000678.1:g.5077774_5077775dup	GRCh37
NC_000016.8:g.5017775_5017776dup	NCBI36
NG_028152.1:g.11168_11169dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1174+72_1174+73dup MANE Select	ENSP00000310998.3:n.1174+72_1174+73dup
ENST00000649828.1:c.*346+72_*346+73dup	ENSP00000498032.1:n.*346+72_*346+73dup
ENST00000312251.7:c.1174+72_1174+73dup	ENSP00000310998.3:n.1174+72_1174+73dup
ENST00000381955.7:c.1174+72_1174+73dup	ENSP00000371381.3:n.1174+72_1174+73dup
ENST00000562746.5:c.*346+72_*346+73dup	ENSP00000455900.1:n.*346+72_*346+73dup
ENST00000563578.5:c.738+1106_738+1107dup
ENST00000564397.5:n.2227+72_2227+73dup
ENST00000565876.5:c.481-395_481-394dup
ENST00000566137.5:n.472+72_472+73dup
ENST00000567739.5:n.493+72_493+73dup
ENST00000568202.5:n.1037+72_1037+73dup
ENST00000569296.5:c.787+72_787+73dup	ENSP00000465949.1:n.787+72_787+73dup
NM_016256.3:c.1174+72_1174+73dup	NP_057340.2:n.1174+72_1174+73dup
XM_011522517.1:c.1174+72_1174+73dup	XP_011520819.1:n.1174+72_1174+73dup
XR_243285.1:n.1270+72_1270+73dup
XM_011522517.3:c.1174+72_1174+73dup	XP_011520819.1:n.1174+72_1174+73dup
XR_001751908.2:n.1269+72_1269+73dup
XR_001751909.2:n.1273+72_1273+73dup
XR_001751910.2:n.1302+72_1302+73dup
XR_001751911.2:n.1302+72_1302+73dup
XR_001751912.2:n.1306+72_1306+73dup
NM_016256.4:c.1174+72_1174+73dup MANE Select	NP_057340.2:n.1174+72_1174+73dup