Canonical Allele Identifier: CA2260598300
Gene: CNTNAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42687288_42687289delinsGC , CM000679.2:g.42687288_42687289delinsGC GRCh38
NC_000017.10:g.40839306_40839307delinsGC , CM000679.1:g.40839306_40839307delinsGC GRCh37
NC_000017.9:g.38092832_38092833delinsGC NCBI36
NG_042091.1:g.9675_9676delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.1044+242_1044+243delinsGC MANE Select ENSP00000264638.3:n.1044+242_1044+243delinsGC
ENST00000264638.8:c.1044+242_1044+243delinsGC ENSP00000264638.3:n.1044+242_1044+243delinsGC
ENST00000586801.1:n.28_29delinsGC
ENST00000591662.1:c.1044+242_1044+243delinsGC ENSP00000466571.1:n.1044+242_1044+243delinsGC
NM_003632.2:c.1044+242_1044+243delinsGC NP_003623.1:n.1044+242_1044+243delinsGC
XM_005257748.3:c.816+242_816+243delinsGC XP_005257805.1:n.816+242_816+243delinsGC
XM_005257748.4:c.816+242_816+243delinsGC XP_005257805.1:n.816+242_816+243delinsGC
XM_017025238.1:c.1044+242_1044+243delinsGC XP_016880727.1:n.1044+242_1044+243delinsGC
XM_024451011.1:c.1044+242_1044+243delinsGC XP_024306779.1:n.1044+242_1044+243delinsGC
NM_003632.3:c.1044+242_1044+243delinsGC MANE Select NP_003623.1:n.1044+242_1044+243delinsGC