Canonical Allele Identifier: CA1750992877

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147882767_147882792delinsACAGACAGGACAGAACCCAGGAAATC , CM000669.2:g.147882767_147882792delinsACAGACAGGACAGAACCCAGGAAATC	GRCh38
NC_000007.13:g.147579859_147579884delinsACAGACAGGACAGAACCCAGGAAATC , CM000669.1:g.147579859_147579884delinsACAGACAGGACAGAACCCAGGAAATC	GRCh37
NC_000007.12:g.147210792_147210817delinsACAGACAGGACAGAACCCAGGAAATC	NCBI36
NG_007092.2:g.1771407_1771432delinsACAGACAGGACAGAACCCAGGAAATC
NG_007092.3:g.1771767_1771792delinsACAGACAGGACAGAACCCAGGAAATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2099-20798_2099-20773delinsACAGACAGGACAGAACCCAGGAAATC MANE Select	ENSP00000354778.3:n.2099-20798_2099-20773delinsACAGACAGGACAGA...
ENST00000636870.1:n.1961-20798_1961-20773delinsACAGACAGGACAGAACCCAGGAAATC
ENST00000637825.1:n.1582-20798_1582-20773delinsACAGACAGGACAGAACCCAGGAAATC
ENST00000361727.7:c.2099-20798_2099-20773delinsACAGACAGGACAGAACCCAGGAAATC	ENSP00000354778.3:n.2099-20798_2099-20773delinsACAGACAGGACAGA...
ENST00000455301.2:n.34-20798_34-20773delinsACAGACAGGACAGAACCCAGGAAATC
ENST00000627772.2:n.272-20798_272-20773delinsACAGACAGGACAGAACCCAGGAAATC
NM_014141.5:c.2099-20798_2099-20773delinsACAGACAGGACAGAACCCAGGAAATC	NP_054860.1:n.2099-20798_2099-20773delinsACAGACAGGACAGAACCCAG...
XM_006715919.1:c.587-20798_587-20773delinsACAGACAGGACAGAACCCAGGAAATC	XP_006715982.1:n.587-20798_587-20773delinsACAGACAGGACAGAACCCA...
NM_014141.6:c.2099-20798_2099-20773delinsACAGACAGGACAGAACCCAGGAAATC MANE Select	NP_054860.1:n.2099-20798_2099-20773delinsACAGACAGGACAGAACCCAG...