Canonical Allele Identifier: CA2809529702
Gene: CNTNAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42688184del , CM000679.2:g.42688184del GRCh38
NC_000017.10:g.40840202del , CM000679.1:g.40840202del GRCh37
NC_000017.9:g.38093728del NCBI36
NG_042091.1:g.10571del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.1306+203del MANE Select ENSP00000264638.3:n.1306+203del
ENST00000264638.8:c.1306+203del ENSP00000264638.3:n.1306+203del
ENST00000586801.1:n.721+203del
ENST00000591662.1:c.1306+203del ENSP00000466571.1:n.1306+203del
NM_003632.2:c.1306+203del NP_003623.1:n.1306+203del
XM_005257748.3:c.1078+203del XP_005257805.1:n.1078+203del
XM_005257748.4:c.1078+203del XP_005257805.1:n.1078+203del
XM_017025238.1:c.1306+203del XP_016880727.1:n.1306+203del
XM_024451011.1:c.1306+203del XP_024306779.1:n.1306+203del
NM_003632.3:c.1306+203del MANE Select NP_003623.1:n.1306+203del