Canonical Allele Identifier: CA1750992881
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147882768_147882794delinsCAGACAGGACAGAACCCAGGAAATCCA , CM000669.2:g.147882768_147882794delinsCAGACAGGACAGAACCCAGGAAATCCA GRCh38
NC_000007.13:g.147579860_147579886delinsCAGACAGGACAGAACCCAGGAAATCCA , CM000669.1:g.147579860_147579886delinsCAGACAGGACAGAACCCAGGAAATCCA GRCh37
NC_000007.12:g.147210793_147210819delinsCAGACAGGACAGAACCCAGGAAATCCA NCBI36
NG_007092.2:g.1771408_1771434delinsCAGACAGGACAGAACCCAGGAAATCCA
NG_007092.3:g.1771768_1771794delinsCAGACAGGACAGAACCCAGGAAATCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-20797_2099-20771delinsCAGACAGGACAGAACCCAGGAAATCCA MANE Select ENSP00000354778.3:n.2099-20797_2099-20771delinsCAGACAGGACAGAA...
ENST00000636870.1:n.1961-20797_1961-20771delinsCAGACAGGACAGAACCCAGGAAATCCA
ENST00000637825.1:n.1582-20797_1582-20771delinsCAGACAGGACAGAACCCAGGAAATCCA
ENST00000361727.7:c.2099-20797_2099-20771delinsCAGACAGGACAGAACCCAGGAAATCCA ENSP00000354778.3:n.2099-20797_2099-20771delinsCAGACAGGACAGAA...
ENST00000455301.2:n.34-20797_34-20771delinsCAGACAGGACAGAACCCAGGAAATCCA
ENST00000627772.2:n.272-20797_272-20771delinsCAGACAGGACAGAACCCAGGAAATCCA
NM_014141.5:c.2099-20797_2099-20771delinsCAGACAGGACAGAACCCAGGAAATCCA NP_054860.1:n.2099-20797_2099-20771delinsCAGACAGGACAGAACCCAGG...
XM_006715919.1:c.587-20797_587-20771delinsCAGACAGGACAGAACCCAGGAAATCCA XP_006715982.1:n.587-20797_587-20771delinsCAGACAGGACAGAACCCAG...
NM_014141.6:c.2099-20797_2099-20771delinsCAGACAGGACAGAACCCAGGAAATCCA MANE Select NP_054860.1:n.2099-20797_2099-20771delinsCAGACAGGACAGAACCCAGG...