Canonical Allele Identifier: CA1750992888
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147882770_147882795delinsGACAGGACAGAACCCAGGAAATCCAA , CM000669.2:g.147882770_147882795delinsGACAGGACAGAACCCAGGAAATCCAA GRCh38
NC_000007.13:g.147579862_147579887delinsGACAGGACAGAACCCAGGAAATCCAA , CM000669.1:g.147579862_147579887delinsGACAGGACAGAACCCAGGAAATCCAA GRCh37
NC_000007.12:g.147210795_147210820delinsGACAGGACAGAACCCAGGAAATCCAA NCBI36
NG_007092.2:g.1771410_1771435delinsGACAGGACAGAACCCAGGAAATCCAA
NG_007092.3:g.1771770_1771795delinsGACAGGACAGAACCCAGGAAATCCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-20795_2099-20770delinsGACAGGACAGAACCCAGGAAATCCAA MANE Select ENSP00000354778.3:n.2099-20795_2099-20770delinsGACAGGACAGAACC...
ENST00000636870.1:n.1961-20795_1961-20770delinsGACAGGACAGAACCCAGGAAATCCAA
ENST00000637825.1:n.1582-20795_1582-20770delinsGACAGGACAGAACCCAGGAAATCCAA
ENST00000361727.7:c.2099-20795_2099-20770delinsGACAGGACAGAACCCAGGAAATCCAA ENSP00000354778.3:n.2099-20795_2099-20770delinsGACAGGACAGAACC...
ENST00000455301.2:n.34-20795_34-20770delinsGACAGGACAGAACCCAGGAAATCCAA
ENST00000627772.2:n.272-20795_272-20770delinsGACAGGACAGAACCCAGGAAATCCAA
NM_014141.5:c.2099-20795_2099-20770delinsGACAGGACAGAACCCAGGAAATCCAA NP_054860.1:n.2099-20795_2099-20770delinsGACAGGACAGAACCCAGGAA...
XM_006715919.1:c.587-20795_587-20770delinsGACAGGACAGAACCCAGGAAATCCAA XP_006715982.1:n.587-20795_587-20770delinsGACAGGACAGAACCCAGGA...
NM_014141.6:c.2099-20795_2099-20770delinsGACAGGACAGAACCCAGGAAATCCAA MANE Select NP_054860.1:n.2099-20795_2099-20770delinsGACAGGACAGAACCCAGGAA...