Canonical Allele Identifier: CA1750436644

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146778192_146778195delinsTTTA , CM000669.2:g.146778192_146778195delinsTTTA	GRCh38
NC_000007.13:g.146475284_146475287delinsTTTA , CM000669.1:g.146475284_146475287delinsTTTA	GRCh37
NC_000007.12:g.146106217_146106220delinsTTTA	NCBI36
NG_007092.2:g.666832_666835delinsTTTA
NG_007092.3:g.667192_667195delinsTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.208+3811_208+3814delinsTTTA MANE Select	ENSP00000354778.3:n.208+3811_208+3814delinsTTTA
ENST00000636277.1:n.75+3811_75+3814delinsTTTA
ENST00000636561.1:n.111+3811_111+3814delinsTTTA
ENST00000636600.1:n.58+3811_58+3814delinsTTTA
ENST00000637150.1:n.137+3811_137+3814delinsTTTA
ENST00000637694.1:n.111+3811_111+3814delinsTTTA
ENST00000638117.1:n.111+3811_111+3814delinsTTTA
ENST00000361727.7:c.208+3811_208+3814delinsTTTA	ENSP00000354778.3:n.208+3811_208+3814delinsTTTA
ENST00000625365.2:c.208+3811_208+3814delinsTTTA	ENSP00000485955.1:n.208+3811_208+3814delinsTTTA
NM_014141.5:c.208+3811_208+3814delinsTTTA	NP_054860.1:n.208+3811_208+3814delinsTTTA
XM_017011950.2:c.208+3811_208+3814delinsTTTA	XP_016867439.1:n.208+3811_208+3814delinsTTTA
NM_014141.6:c.208+3811_208+3814delinsTTTA MANE Select	NP_054860.1:n.208+3811_208+3814delinsTTTA