Canonical Allele Identifier: CA1750992629
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147882462_147882463delinsGC , CM000669.2:g.147882462_147882463delinsGC GRCh38
NC_000007.13:g.147579554_147579555delinsGC , CM000669.1:g.147579554_147579555delinsGC GRCh37
NC_000007.12:g.147210487_147210488delinsGC NCBI36
NG_007092.2:g.1771102_1771103delinsGC
NG_007092.3:g.1771462_1771463delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-21103_2099-21102delinsGC MANE Select ENSP00000354778.3:n.2099-21103_2099-21102delinsGC
ENST00000636870.1:n.1961-21103_1961-21102delinsGC
ENST00000637825.1:n.1582-21103_1582-21102delinsGC
ENST00000361727.7:c.2099-21103_2099-21102delinsGC ENSP00000354778.3:n.2099-21103_2099-21102delinsGC
ENST00000455301.2:n.34-21103_34-21102delinsGC
ENST00000627772.2:n.272-21103_272-21102delinsGC
NM_014141.5:c.2099-21103_2099-21102delinsGC NP_054860.1:n.2099-21103_2099-21102delinsGC
XM_006715919.1:c.587-21103_587-21102delinsGC XP_006715982.1:n.587-21103_587-21102delinsGC
NM_014141.6:c.2099-21103_2099-21102delinsGC MANE Select NP_054860.1:n.2099-21103_2099-21102delinsGC