Canonical Allele Identifier: CA1750988163

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147877968_147877969delinsGT , CM000669.2:g.147877968_147877969delinsGT	GRCh38
NC_000007.13:g.147575060_147575061delinsGT , CM000669.1:g.147575060_147575061delinsGT	GRCh37
NC_000007.12:g.147205993_147205994delinsGT	NCBI36
NG_007092.2:g.1766608_1766609delinsGT
NG_007092.3:g.1766968_1766969delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2099-25597_2099-25596delinsGT MANE Select	ENSP00000354778.3:n.2099-25597_2099-25596delinsGT
ENST00000636870.1:n.1961-25597_1961-25596delinsGT
ENST00000637825.1:n.1582-25597_1582-25596delinsGT
ENST00000361727.7:c.2099-25597_2099-25596delinsGT	ENSP00000354778.3:n.2099-25597_2099-25596delinsGT
ENST00000455301.2:n.34-25597_34-25596delinsGT
ENST00000627772.2:n.272-25597_272-25596delinsGT
NM_014141.5:c.2099-25597_2099-25596delinsGT	NP_054860.1:n.2099-25597_2099-25596delinsGT
XM_006715919.1:c.587-25597_587-25596delinsGT	XP_006715982.1:n.587-25597_587-25596delinsGT
NM_014141.6:c.2099-25597_2099-25596delinsGT MANE Select	NP_054860.1:n.2099-25597_2099-25596delinsGT