Canonical Allele Identifier: CA1750443767

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146792537_146792538delinsCA , CM000669.2:g.146792537_146792538delinsCA	GRCh38
NC_000007.13:g.146489629_146489630delinsCA , CM000669.1:g.146489629_146489630delinsCA	GRCh37
NC_000007.12:g.146120562_146120563delinsCA	NCBI36
NG_007092.2:g.681177_681178delinsCA
NG_007092.3:g.681537_681538delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.208+18156_208+18157delinsCA MANE Select	ENSP00000354778.3:n.208+18156_208+18157de...
ENST00000636561.1:n.111+18156_111+18157delinsCA
ENST00000637150.1:n.137+18156_137+18157delinsCA
ENST00000637694.1:n.111+18156_111+18157delinsCA
ENST00000638117.1:n.111+18156_111+18157delinsCA
ENST00000361727.7:c.208+18156_208+18157delinsCA	ENSP00000354778.3:n.208+18156_208+18157de...
ENST00000625365.2:c.208+18156_208+18157delinsCA	ENSP00000485955.1:n.208+18156_208+18157de...
NM_014141.5:c.208+18156_208+18157delinsCA	NP_054860.1:n.208+18156_208+18157delinsCA...
XM_017011950.2:c.208+18156_208+18157delinsCA	XP_016867439.1:n.208+18156_208+18157delin...
NM_014141.6:c.208+18156_208+18157delinsCA MANE Select	NP_054860.1:n.208+18156_208+18157delinsCA...