Canonical Allele Identifier: CA16617774
Gene: ZAP70 HGNC NCBI

Linked Data

ClinVar Variation Id: 418647
ClinVar RCV Id: RCV000482821
dbSNP Id: rs1064793340

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.97735447del , CM000664.2:g.97735447del GRCh38
NC_000002.11:g.98351910del , CM000664.1:g.98351910del GRCh37
NC_000002.10:g.97718342del NCBI36
NG_007727.1:g.26880del , LRG_126:g.26880del

Transcript Alleles

HGVS Amino-acid change
ENST00000698508.1:c.1280del ENSP00000513759.1:p.Val427AlafsTer9
ENST00000698509.1:n.1420del
ENST00000264972.10:c.1280del MANE Select ENSP00000264972.5:p.Val427AlafsTer9
ENST00000264972.9:c.1280del ENSP00000264972.5:p.Val427AlafsTer9
ENST00000451498.2:c.359del ENSP00000400475.2:p.Val120AlafsTer9
ENST00000463643.5:n.1141del
ENST00000487283.5:n.2332del
ENST00000495754.1:n.218del
NM_001079.3:c.1280del , LRG_126t1:c.1280del NP_001070.2:p.Val427AlafsTer9
NM_207519.1:c.359del NP_997402.1:p.Val120AlafsTer9
XM_005264015.3:c.1262del XP_005264072.1:p.Val421AlafsTer9
XM_006712728.2:c.1280del XP_006712791.1:p.Val427AlafsTer9
XM_011511783.1:c.1280del XP_011510085.1:p.Val427AlafsTer9
XR_923018.1:n.1482del
XR_923019.1:n.1482del
XR_923020.1:n.1482del
XM_017004867.1:c.1649del XP_016860356.1:p.Val550AlafsTer9
XM_017004868.1:c.1631del XP_016860357.1:p.Val544AlafsTer9
XM_017004869.1:c.1649del XP_016860358.1:p.Val550AlafsTer9
XM_017004870.1:c.1649del XP_016860359.1:p.Val550AlafsTer9
XR_001738925.1:n.2888del
XR_001738926.1:n.2888del
XR_001738927.1:n.2888del
NM_001079.4:c.1280del MANE Select NP_001070.2:p.Val427AlafsTer9
NM_001378594.1:c.1280del NP_001365523.1:p.Val427AlafsTer9
NM_207519.2:c.359del NP_997402.1:p.Val120AlafsTer9