Canonical Allele Identifier: CA1750443595
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1802687388

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792233_146792237del , CM000669.2:g.146792233_146792237del GRCh38
NC_000007.13:g.146489325_146489329del , CM000669.1:g.146489325_146489329del GRCh37
NC_000007.12:g.146120258_146120262del NCBI36
NG_007092.2:g.680873_680877del
NG_007092.3:g.681233_681237del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+17852_208+17856del MANE Select ENSP00000354778.3:n.208+17852_208+17856del
ENST00000636561.1:n.111+17852_111+17856del
ENST00000637150.1:n.137+17852_137+17856del
ENST00000637694.1:n.111+17852_111+17856del
ENST00000638117.1:n.111+17852_111+17856del
ENST00000361727.7:c.208+17852_208+17856del ENSP00000354778.3:n.208+17852_208+17856del
ENST00000625365.2:c.208+17852_208+17856del ENSP00000485955.1:n.208+17852_208+17856del
NM_014141.5:c.208+17852_208+17856del NP_054860.1:n.208+17852_208+17856del
XM_017011950.2:c.208+17852_208+17856del XP_016867439.1:n.208+17852_208+17856del
NM_014141.6:c.208+17852_208+17856del MANE Select NP_054860.1:n.208+17852_208+17856del