Canonical Allele Identifier: CA2631584378

Gene: NAGPA

Linked Data

• gnomAD v4: 16-5028689-TCTTTGCTGACCAACTGACCCTGCTCCTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028690_5028717del , CM000678.2:g.5028690_5028717del	GRCh38
NC_000016.9:g.5078691_5078718del , CM000678.1:g.5078691_5078718del	GRCh37
NC_000016.8:g.5018692_5018719del	NCBI36
NG_028152.1:g.10225_10252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.920+163_920+190del MANE Select	ENSP00000310998.3:n.920+163_920+190del
ENST00000649828.1:c.920+163_920+190del	ENSP00000498032.1:n.920+163_920+190del
ENST00000312251.7:c.920+163_920+190del	ENSP00000310998.3:n.920+163_920+190del
ENST00000381955.7:c.920+163_920+190del	ENSP00000371381.3:n.920+163_920+190del
ENST00000562346.2:c.505-532_505-505del
ENST00000562746.5:c.920+163_920+190del	ENSP00000455900.1:n.920+163_920+190del
ENST00000563578.5:c.738+163_738+190del
ENST00000564397.5:n.1442_1469del
ENST00000565876.5:c.481-1338_481-1311del
ENST00000567739.5:n.239+163_239+190del
ENST00000568202.5:n.783+163_783+190del
ENST00000569296.5:c.464+163_464+190del	ENSP00000465949.1:n.464+163_464+190del
NM_016256.3:c.920+163_920+190del	NP_057340.2:n.920+163_920+190del
XM_011522517.1:c.920+163_920+190del	XP_011520819.1:n.920+163_920+190del
XM_011522518.1:c.920+163_920+190del	XP_011520820.1:n.920+163_920+190del
XM_011522519.1:c.920+163_920+190del	XP_011520821.1:n.920+163_920+190del
XR_243285.1:n.947+163_947+190del
XM_011522517.3:c.920+163_920+190del	XP_011520819.1:n.920+163_920+190del
XR_001751908.2:n.946+163_946+190del
XR_001751909.2:n.946+163_946+190del
XR_001751910.2:n.946+163_946+190del
XR_001751911.2:n.946+163_946+190del
XR_001751912.2:n.946+163_946+190del
NM_016256.4:c.920+163_920+190del MANE Select	NP_057340.2:n.920+163_920+190del