Canonical Allele Identifier: CA1750443760
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792523_146792525delinsCTA , CM000669.2:g.146792523_146792525delinsCTA GRCh38
NC_000007.13:g.146489615_146489617delinsCTA , CM000669.1:g.146489615_146489617delinsCTA GRCh37
NC_000007.12:g.146120548_146120550delinsCTA NCBI36
NG_007092.2:g.681163_681165delinsCTA
NG_007092.3:g.681523_681525delinsCTA

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.208+18142_208+18144delinsCTA MANE Select ENSP00000354778.3:n.208+18142_208+18144de...
ENST00000636561.1:n.111+18142_111+18144delinsCTA
ENST00000637150.1:n.137+18142_137+18144delinsCTA
ENST00000637694.1:n.111+18142_111+18144delinsCTA
ENST00000638117.1:n.111+18142_111+18144delinsCTA
ENST00000361727.7:c.208+18142_208+18144delinsCTA ENSP00000354778.3:n.208+18142_208+18144de...
ENST00000625365.2:c.208+18142_208+18144delinsCTA ENSP00000485955.1:n.208+18142_208+18144de...
NM_014141.5:c.208+18142_208+18144delinsCTA NP_054860.1:n.208+18142_208+18144delinsCT...
XM_017011950.2:c.208+18142_208+18144delinsCTA XP_016867439.1:n.208+18142_208+18144delin...
NM_014141.6:c.208+18142_208+18144delinsCTA MANE Select NP_054860.1:n.208+18142_208+18144delinsCT...