Canonical Allele Identifier: CA2571408278
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571109_147571110insC , CM000669.2:g.147571109_147571110insC GRCh38
NC_000007.13:g.147268201_147268202insC , CM000669.1:g.147268201_147268202insC GRCh37
NC_000007.12:g.146899134_146899135insC NCBI36
NG_007092.2:g.1459749_1459750insC
NG_007092.3:g.1460109_1460110insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+8852_1897+8853insC MANE Select ENSP00000354778.3:n.1897+8852_1897+8853insC
ENST00000636870.1:n.1759+8852_1759+8853insC
ENST00000637825.1:n.1380+8852_1380+8853insC
ENST00000638117.1:n.1800+8852_1800+8853insC
ENST00000361727.7:c.1897+8852_1897+8853insC ENSP00000354778.3:n.1897+8852_1897+8853insC
NM_014141.5:c.1897+8852_1897+8853insC NP_054860.1:n.1897+8852_1897+8853insC
XM_006715919.1:c.385+8852_385+8853insC XP_006715982.1:n.385+8852_385+8853insC
XM_017011950.2:c.1897+8852_1897+8853insC XP_016867439.1:n.1897+8852_1897+8853insC
NM_014141.6:c.1897+8852_1897+8853insC MANE Select NP_054860.1:n.1897+8852_1897+8853insC