Canonical Allele Identifier: CA1750619898
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1801403998

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132806_147132810del , CM000669.2:g.147132806_147132810del GRCh38
NC_000007.13:g.146829898_146829902del , CM000669.1:g.146829898_146829902del GRCh37
NC_000007.12:g.146460831_146460835del NCBI36
NG_007092.2:g.1021446_1021450del
NG_007092.3:g.1021806_1021810del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1348+297_1348+301del MANE Select ENSP00000354778.3:n.1348+297_1348+301del
ENST00000636561.1:n.1251+297_1251+301del
ENST00000636870.1:n.1210+297_1210+301del
ENST00000637150.1:n.1277+297_1277+301del
ENST00000637694.1:n.1251+297_1251+301del
ENST00000637825.1:n.831+297_831+301del
ENST00000638117.1:n.1251+297_1251+301del
ENST00000361727.7:c.1348+297_1348+301del ENSP00000354778.3:n.1348+297_1348+301del
NM_014141.5:c.1348+297_1348+301del NP_054860.1:n.1348+297_1348+301del
XM_017011950.2:c.1348+297_1348+301del XP_016867439.1:n.1348+297_1348+301del
NM_014141.6:c.1348+297_1348+301del MANE Select NP_054860.1:n.1348+297_1348+301del