Canonical Allele Identifier: CA2778336702
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571512_147571520del , CM000669.2:g.147571512_147571520del GRCh38
NC_000007.13:g.147268604_147268612del , CM000669.1:g.147268604_147268612del GRCh37
NC_000007.12:g.146899537_146899545del NCBI36
NG_007092.2:g.1460152_1460160del
NG_007092.3:g.1460512_1460520del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+9255_1897+9263del MANE Select ENSP00000354778.3:n.1897+9255_1897+9263del
ENST00000636870.1:n.1759+9255_1759+9263del
ENST00000637825.1:n.1380+9255_1380+9263del
ENST00000638117.1:n.1800+9255_1800+9263del
ENST00000361727.7:c.1897+9255_1897+9263del ENSP00000354778.3:n.1897+9255_1897+9263del
NM_014141.5:c.1897+9255_1897+9263del NP_054860.1:n.1897+9255_1897+9263del
XM_006715919.1:c.385+9255_385+9263del XP_006715982.1:n.385+9255_385+9263del
XM_017011950.2:c.1897+9255_1897+9263del XP_016867439.1:n.1897+9255_1897+9263del
NM_014141.6:c.1897+9255_1897+9263del MANE Select NP_054860.1:n.1897+9255_1897+9263del