Canonical Allele Identifier: CA1750993598

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147904759_147904763delinsCCTAT , CM000669.2:g.147904759_147904763delinsCCTAT	GRCh38
NC_000007.13:g.147601851_147601855delinsCCTAT , CM000669.1:g.147601851_147601855delinsCCTAT	GRCh37
NC_000007.12:g.147232784_147232788delinsCCTAT	NCBI36
NG_007092.2:g.1793399_1793403delinsCCTAT
NG_007092.3:g.1793759_1793763delinsCCTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2255+1038_2255+1042delinsCCTAT MANE Select	ENSP00000354778.3:n.2255+1038_2255+1042delinsCCTAT
ENST00000636870.1:n.2117+1038_2117+1042delinsCCTAT
ENST00000637825.1:n.1738+1038_1738+1042delinsCCTAT
ENST00000361727.7:c.2255+1038_2255+1042delinsCCTAT	ENSP00000354778.3:n.2255+1038_2255+1042delinsCCTAT
ENST00000455301.2:n.190+1038_190+1042delinsCCTAT
ENST00000627772.2:n.428+1038_428+1042delinsCCTAT
NM_014141.5:c.2255+1038_2255+1042delinsCCTAT	NP_054860.1:n.2255+1038_2255+1042delinsCCTAT
XM_006715919.1:c.743+1038_743+1042delinsCCTAT	XP_006715982.1:n.743+1038_743+1042delinsCCTAT
NM_014141.6:c.2255+1038_2255+1042delinsCCTAT MANE Select	NP_054860.1:n.2255+1038_2255+1042delinsCCTAT