Canonical Allele Identifier: CA277160421

Gene: NAGPA

Linked Data

• dbSNP Id: rs763677545
• gnomAD v3: 16-5027638-C-CGG
• gnomAD v4: 16-5027638-C-CGG
• MyVariant Identifiers: chr16:g.5077639_5077640insGG (hg19) ; chr16:g.5027638_5027639insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027641_5027642dup , CM000678.2:g.5027641_5027642dup	GRCh38
NC_000016.9:g.5077642_5077643dup , CM000678.1:g.5077642_5077643dup	GRCh37
NC_000016.8:g.5017643_5017644dup	NCBI36
NG_028152.1:g.11302_11303dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1174+206_1174+207dup MANE Select	ENSP00000310998.3:n.1174+206_1174+207dup
ENST00000649828.1:c.*346+206_*346+207dup	ENSP00000498032.1:n.*346+206_*346+207dup
ENST00000312251.7:c.1174+206_1174+207dup	ENSP00000310998.3:n.1174+206_1174+207dup
ENST00000381955.7:c.1174+206_1174+207dup	ENSP00000371381.3:n.1174+206_1174+207dup
ENST00000562746.5:c.*346+206_*346+207dup	ENSP00000455900.1:n.*346+206_*346+207dup
ENST00000563578.5:c.738+1240_738+1241dup
ENST00000564397.5:n.2227+206_2227+207dup
ENST00000565876.5:c.481-261_481-260dup
ENST00000566137.5:n.472+206_472+207dup
ENST00000567739.5:n.493+206_493+207dup
ENST00000568202.5:n.1037+206_1037+207dup
ENST00000569296.5:c.787+206_787+207dup	ENSP00000465949.1:n.787+206_787+207dup
NM_016256.3:c.1174+206_1174+207dup	NP_057340.2:n.1174+206_1174+207dup
XM_011522517.1:c.1174+206_1174+207dup	XP_011520819.1:n.1174+206_1174+207dup
XR_243285.1:n.1270+206_1270+207dup
XM_011522517.3:c.1174+206_1174+207dup	XP_011520819.1:n.1174+206_1174+207dup
XR_001751908.2:n.1269+206_1269+207dup
XR_001751909.2:n.1273+206_1273+207dup
XR_001751910.2:n.1302+206_1302+207dup
XR_001751911.2:n.1302+206_1302+207dup
XR_001751912.2:n.1306+206_1306+207dup
NM_016256.4:c.1174+206_1174+207dup MANE Select	NP_057340.2:n.1174+206_1174+207dup