Canonical Allele Identifier: CA2501845477
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147882759_147882761del , CM000669.2:g.147882759_147882761del GRCh38
NC_000007.13:g.147579851_147579853del , CM000669.1:g.147579851_147579853del GRCh37
NC_000007.12:g.147210784_147210786del NCBI36
NG_007092.2:g.1771399_1771401del
NG_007092.3:g.1771759_1771761del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-20806_2099-20804del MANE Select ENSP00000354778.3:n.2099-20806_2099-20804del
ENST00000636870.1:n.1961-20806_1961-20804del
ENST00000637825.1:n.1582-20806_1582-20804del
ENST00000361727.7:c.2099-20806_2099-20804del ENSP00000354778.3:n.2099-20806_2099-20804del
ENST00000455301.2:n.34-20806_34-20804del
ENST00000627772.2:n.272-20806_272-20804del
NM_014141.5:c.2099-20806_2099-20804del NP_054860.1:n.2099-20806_2099-20804del
XM_006715919.1:c.587-20806_587-20804del XP_006715982.1:n.587-20806_587-20804del
NM_014141.6:c.2099-20806_2099-20804del MANE Select NP_054860.1:n.2099-20806_2099-20804del