Canonical Allele Identifier: CA2778344493
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147882773_147882795del , CM000669.2:g.147882773_147882795del GRCh38
NC_000007.13:g.147579865_147579887del , CM000669.1:g.147579865_147579887del GRCh37
NC_000007.12:g.147210798_147210820del NCBI36
NG_007092.2:g.1771413_1771435del
NG_007092.3:g.1771773_1771795del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-20792_2099-20770del MANE Select ENSP00000354778.3:n.2099-20792_2099-20770del
ENST00000636870.1:n.1961-20792_1961-20770del
ENST00000637825.1:n.1582-20792_1582-20770del
ENST00000361727.7:c.2099-20792_2099-20770del ENSP00000354778.3:n.2099-20792_2099-20770del
ENST00000455301.2:n.34-20792_34-20770del
ENST00000627772.2:n.272-20792_272-20770del
NM_014141.5:c.2099-20792_2099-20770del NP_054860.1:n.2099-20792_2099-20770del
XM_006715919.1:c.587-20792_587-20770del XP_006715982.1:n.587-20792_587-20770del
NM_014141.6:c.2099-20792_2099-20770del MANE Select NP_054860.1:n.2099-20792_2099-20770del