Canonical Allele Identifier: CA1750988151
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147877951_147877952delinsGC , CM000669.2:g.147877951_147877952delinsGC GRCh38
NC_000007.13:g.147575043_147575044delinsGC , CM000669.1:g.147575043_147575044delinsGC GRCh37
NC_000007.12:g.147205976_147205977delinsGC NCBI36
NG_007092.2:g.1766591_1766592delinsGC
NG_007092.3:g.1766951_1766952delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-25614_2099-25613delinsGC MANE Select ENSP00000354778.3:n.2099-25614_2099-25613delinsGC
ENST00000636870.1:n.1961-25614_1961-25613delinsGC
ENST00000637825.1:n.1582-25614_1582-25613delinsGC
ENST00000361727.7:c.2099-25614_2099-25613delinsGC ENSP00000354778.3:n.2099-25614_2099-25613delinsGC
ENST00000455301.2:n.34-25614_34-25613delinsGC
ENST00000627772.2:n.272-25614_272-25613delinsGC
NM_014141.5:c.2099-25614_2099-25613delinsGC NP_054860.1:n.2099-25614_2099-25613delinsGC
XM_006715919.1:c.587-25614_587-25613delinsGC XP_006715982.1:n.587-25614_587-25613delinsGC
NM_014141.6:c.2099-25614_2099-25613delinsGC MANE Select NP_054860.1:n.2099-25614_2099-25613delinsGC