Canonical Allele Identifier: CA2685448913
Gene: CNTNAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132578del , CM000669.2:g.147132578del GRCh38
NC_000007.13:g.146829670del , CM000669.1:g.146829670del GRCh37
NC_000007.12:g.146460603del NCBI36
NG_007092.2:g.1021218del
NG_007092.3:g.1021578del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1348+69del MANE Select ENSP00000354778.3:n.1348+69del
ENST00000636561.1:n.1251+69del
ENST00000636870.1:n.1210+69del
ENST00000637150.1:n.1277+69del
ENST00000637694.1:n.1251+69del
ENST00000637825.1:n.831+69del
ENST00000638117.1:n.1251+69del
ENST00000361727.7:c.1348+69del ENSP00000354778.3:n.1348+69del
NM_014141.5:c.1348+69del NP_054860.1:n.1348+69del
XM_017011950.2:c.1348+69del XP_016867439.1:n.1348+69del
NM_014141.6:c.1348+69del MANE Select NP_054860.1:n.1348+69del