Canonical Allele Identifier: CA2831513663
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571259_147571260insGAAATA , CM000669.2:g.147571259_147571260insGAAATA GRCh38
NC_000007.13:g.147268351_147268352insGAAATA , CM000669.1:g.147268351_147268352insGAAATA GRCh37
NC_000007.12:g.146899284_146899285insGAAATA NCBI36
NG_007092.2:g.1459899_1459900insGAAATA
NG_007092.3:g.1460259_1460260insGAAATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+9002_1897+9003insGAAATA MANE Select ENSP00000354778.3:n.1897+9002_1897+9003insGAAATA
ENST00000636870.1:n.1759+9002_1759+9003insGAAATA
ENST00000637825.1:n.1380+9002_1380+9003insGAAATA
ENST00000638117.1:n.1800+9002_1800+9003insGAAATA
ENST00000361727.7:c.1897+9002_1897+9003insGAAATA ENSP00000354778.3:n.1897+9002_1897+9003insGAAATA
NM_014141.5:c.1897+9002_1897+9003insGAAATA NP_054860.1:n.1897+9002_1897+9003insGAAATA
XM_006715919.1:c.385+9002_385+9003insGAAATA XP_006715982.1:n.385+9002_385+9003insGAAATA
XM_017011950.2:c.1897+9002_1897+9003insGAAATA XP_016867439.1:n.1897+9002_1897+9003insGAAATA
NM_014141.6:c.1897+9002_1897+9003insGAAATA MANE Select NP_054860.1:n.1897+9002_1897+9003insGAAATA