Canonical Allele Identifier: CA1750436718
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1802426100

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778348_146778349del , CM000669.2:g.146778348_146778349del GRCh38
NC_000007.13:g.146475440_146475441del , CM000669.1:g.146475440_146475441del GRCh37
NC_000007.12:g.146106373_146106374del NCBI36
NG_007092.2:g.666988_666989del
NG_007092.3:g.667348_667349del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+3967_208+3968del MANE Select ENSP00000354778.3:n.208+3967_208+3968del
ENST00000636277.1:n.75+3967_75+3968del
ENST00000636561.1:n.111+3967_111+3968del
ENST00000636600.1:n.59-3861_59-3860del
ENST00000637150.1:n.137+3967_137+3968del
ENST00000637694.1:n.111+3967_111+3968del
ENST00000638117.1:n.111+3967_111+3968del
ENST00000361727.7:c.208+3967_208+3968del ENSP00000354778.3:n.208+3967_208+3968del
ENST00000625365.2:c.208+3967_208+3968del ENSP00000485955.1:n.208+3967_208+3968del
NM_014141.5:c.208+3967_208+3968del NP_054860.1:n.208+3967_208+3968del
XM_017011950.2:c.208+3967_208+3968del XP_016867439.1:n.208+3967_208+3968del
NM_014141.6:c.208+3967_208+3968del MANE Select NP_054860.1:n.208+3967_208+3968del