Canonical Allele Identifier: CA2631583581

Gene: NAGPA

Linked Data

• gnomAD v4: 16-5027937-A-AGGCAGGGCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027943_5027952dup , CM000678.2:g.5027943_5027952dup	GRCh38
NC_000016.9:g.5077944_5077953dup , CM000678.1:g.5077944_5077953dup	GRCh37
NC_000016.8:g.5017945_5017954dup	NCBI36
NG_028152.1:g.10995_11004dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1126+33_1126+42dup MANE Select	ENSP00000310998.3:n.1126+33_1126+42dup
ENST00000649828.1:c.*298+33_*298+42dup	ENSP00000498032.1:n.*298+33_*298+42dup
ENST00000312251.7:c.1126+33_1126+42dup	ENSP00000310998.3:n.1126+33_1126+42dup
ENST00000381955.7:c.1126+33_1126+42dup	ENSP00000371381.3:n.1126+33_1126+42dup
ENST00000562746.5:c.*298+33_*298+42dup	ENSP00000455900.1:n.*298+33_*298+42dup
ENST00000563578.5:c.738+933_738+942dup
ENST00000564397.5:n.2179+33_2179+42dup
ENST00000565876.5:c.481-568_481-559dup
ENST00000566137.5:n.424+33_424+42dup
ENST00000567739.5:n.445+33_445+42dup
ENST00000568202.5:n.989+33_989+42dup
ENST00000569296.5:c.739+33_739+42dup	ENSP00000465949.1:n.739+33_739+42dup
NM_016256.3:c.1126+33_1126+42dup	NP_057340.2:n.1126+33_1126+42dup
XM_011522517.1:c.1126+33_1126+42dup	XP_011520819.1:n.1126+33_1126+42dup
XR_243285.1:n.1222+33_1222+42dup
XM_011522517.3:c.1126+33_1126+42dup	XP_011520819.1:n.1126+33_1126+42dup
XR_001751908.2:n.1221+33_1221+42dup
XR_001751909.2:n.1225+33_1225+42dup
XR_001751910.2:n.1254+33_1254+42dup
XR_001751911.2:n.1254+33_1254+42dup
XR_001751912.2:n.1258+33_1258+42dup
NM_016256.4:c.1126+33_1126+42dup MANE Select	NP_057340.2:n.1126+33_1126+42dup