Canonical Allele Identifier: CA2685448928
Gene: CNTNAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132617del , CM000669.2:g.147132617del GRCh38
NC_000007.13:g.146829709del , CM000669.1:g.146829709del GRCh37
NC_000007.12:g.146460642del NCBI36
NG_007092.2:g.1021257del
NG_007092.3:g.1021617del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1348+108del MANE Select ENSP00000354778.3:n.1348+108del
ENST00000636561.1:n.1251+108del
ENST00000636870.1:n.1210+108del
ENST00000637150.1:n.1277+108del
ENST00000637694.1:n.1251+108del
ENST00000637825.1:n.831+108del
ENST00000638117.1:n.1251+108del
ENST00000361727.7:c.1348+108del ENSP00000354778.3:n.1348+108del
NM_014141.5:c.1348+108del NP_054860.1:n.1348+108del
XM_017011950.2:c.1348+108del XP_016867439.1:n.1348+108del
NM_014141.6:c.1348+108del MANE Select NP_054860.1:n.1348+108del