Canonical Allele Identifier: CA2778336697
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571381_147571386del , CM000669.2:g.147571381_147571386del GRCh38
NC_000007.13:g.147268473_147268478del , CM000669.1:g.147268473_147268478del GRCh37
NC_000007.12:g.146899406_146899411del NCBI36
NG_007092.2:g.1460021_1460026del
NG_007092.3:g.1460381_1460386del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+9124_1897+9129del MANE Select ENSP00000354778.3:n.1897+9124_1897+9129del
ENST00000636870.1:n.1759+9124_1759+9129del
ENST00000637825.1:n.1380+9124_1380+9129del
ENST00000638117.1:n.1800+9124_1800+9129del
ENST00000361727.7:c.1897+9124_1897+9129del ENSP00000354778.3:n.1897+9124_1897+9129del
NM_014141.5:c.1897+9124_1897+9129del NP_054860.1:n.1897+9124_1897+9129del
XM_006715919.1:c.385+9124_385+9129del XP_006715982.1:n.385+9124_385+9129del
XM_017011950.2:c.1897+9124_1897+9129del XP_016867439.1:n.1897+9124_1897+9129del
NM_014141.6:c.1897+9124_1897+9129del MANE Select NP_054860.1:n.1897+9124_1897+9129del