Canonical Allele Identifier: CA2778317862
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778482_146778484del , CM000669.2:g.146778482_146778484del GRCh38
NC_000007.13:g.146475574_146475576del , CM000669.1:g.146475574_146475576del GRCh37
NC_000007.12:g.146106507_146106509del NCBI36
NG_007092.2:g.667122_667124del
NG_007092.3:g.667482_667484del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+4101_208+4103del MANE Select ENSP00000354778.3:n.208+4101_208+4103del
ENST00000636277.1:n.75+4101_75+4103del
ENST00000636561.1:n.111+4101_111+4103del
ENST00000636600.1:n.59-3727_59-3725del
ENST00000637150.1:n.137+4101_137+4103del
ENST00000637694.1:n.111+4101_111+4103del
ENST00000638117.1:n.111+4101_111+4103del
ENST00000361727.7:c.208+4101_208+4103del ENSP00000354778.3:n.208+4101_208+4103del
ENST00000625365.2:c.208+4101_208+4103del ENSP00000485955.1:n.208+4101_208+4103del
NM_014141.5:c.208+4101_208+4103del NP_054860.1:n.208+4101_208+4103del
XM_017011950.2:c.208+4101_208+4103del XP_016867439.1:n.208+4101_208+4103del
NM_014141.6:c.208+4101_208+4103del MANE Select NP_054860.1:n.208+4101_208+4103del