Canonical Allele Identifier: CA2631583121

Gene: NAGPA

Linked Data

• gnomAD v4: 16-5027697-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027702_5027703del , CM000678.2:g.5027702_5027703del	GRCh38
NC_000016.9:g.5077703_5077704del , CM000678.1:g.5077703_5077704del	GRCh37
NC_000016.8:g.5017704_5017705del	NCBI36
NG_028152.1:g.11243_11244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1174+147_1174+148del MANE Select	ENSP00000310998.3:n.1174+147_1174+148del
ENST00000649828.1:c.*346+147_*346+148del	ENSP00000498032.1:n.*346+147_*346+148del
ENST00000312251.7:c.1174+147_1174+148del	ENSP00000310998.3:n.1174+147_1174+148del
ENST00000381955.7:c.1174+147_1174+148del	ENSP00000371381.3:n.1174+147_1174+148del
ENST00000562746.5:c.*346+147_*346+148del	ENSP00000455900.1:n.*346+147_*346+148del
ENST00000563578.5:c.738+1181_738+1182del
ENST00000564397.5:n.2227+147_2227+148del
ENST00000565876.5:c.481-320_481-319del
ENST00000566137.5:n.472+147_472+148del
ENST00000567739.5:n.493+147_493+148del
ENST00000568202.5:n.1037+147_1037+148del
ENST00000569296.5:c.787+147_787+148del	ENSP00000465949.1:n.787+147_787+148del
NM_016256.3:c.1174+147_1174+148del	NP_057340.2:n.1174+147_1174+148del
XM_011522517.1:c.1174+147_1174+148del	XP_011520819.1:n.1174+147_1174+148del
XR_243285.1:n.1270+147_1270+148del
XM_011522517.3:c.1174+147_1174+148del	XP_011520819.1:n.1174+147_1174+148del
XR_001751908.2:n.1269+147_1269+148del
XR_001751909.2:n.1273+147_1273+148del
XR_001751910.2:n.1302+147_1302+148del
XR_001751911.2:n.1302+147_1302+148del
XR_001751912.2:n.1306+147_1306+148del
NM_016256.4:c.1174+147_1174+148del MANE Select	NP_057340.2:n.1174+147_1174+148del