Canonical Allele Identifier: CA1750436670
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1802424305

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778245_146778246del , CM000669.2:g.146778245_146778246del GRCh38
NC_000007.13:g.146475337_146475338del , CM000669.1:g.146475337_146475338del GRCh37
NC_000007.12:g.146106270_146106271del NCBI36
NG_007092.2:g.666885_666886del
NG_007092.3:g.667245_667246del

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.208+3864_208+3865del MANE Select ENSP00000354778.3:n.208+3864_208+3865del
ENST00000636277.1:n.75+3864_75+3865del
ENST00000636561.1:n.111+3864_111+3865del
ENST00000636600.1:n.58+3864_58+3865del
ENST00000637150.1:n.137+3864_137+3865del
ENST00000637694.1:n.111+3864_111+3865del
ENST00000638117.1:n.111+3864_111+3865del
ENST00000361727.7:c.208+3864_208+3865del ENSP00000354778.3:n.208+3864_208+3865del
ENST00000625365.2:c.208+3864_208+3865del ENSP00000485955.1:n.208+3864_208+3865del
NM_014141.5:c.208+3864_208+3865del NP_054860.1:n.208+3864_208+3865del
XM_017011950.2:c.208+3864_208+3865del XP_016867439.1:n.208+3864_208+3865del
NM_014141.6:c.208+3864_208+3865del MANE Select NP_054860.1:n.208+3864_208+3865del