Canonical Allele Identifier: CA919843611
Gene: CNTNAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1567971062

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42687289del , CM000679.2:g.42687289del GRCh38
NC_000017.10:g.40839307del , CM000679.1:g.40839307del GRCh37
NC_000017.9:g.38092833del NCBI36
NG_042091.1:g.9676del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.1044+243del MANE Select ENSP00000264638.3:n.1044+243del
ENST00000264638.8:c.1044+243del ENSP00000264638.3:n.1044+243del
ENST00000586801.1:n.29del
ENST00000591662.1:c.1044+243del ENSP00000466571.1:n.1044+243del
NM_003632.2:c.1044+243del NP_003623.1:n.1044+243del
XM_005257748.3:c.816+243del XP_005257805.1:n.816+243del
XM_005257748.4:c.816+243del XP_005257805.1:n.816+243del
XM_017025238.1:c.1044+243del XP_016880727.1:n.1044+243del
XM_024451011.1:c.1044+243del XP_024306779.1:n.1044+243del
NM_003632.3:c.1044+243del MANE Select NP_003623.1:n.1044+243del