Canonical Allele Identifier: CA2695208596

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132336_147132337dup , CM000669.2:g.147132336_147132337dup	GRCh38
NC_000007.13:g.146829428_146829429dup , CM000669.1:g.146829428_146829429dup	GRCh37
NC_000007.12:g.146460361_146460362dup	NCBI36
NG_007092.2:g.1020976_1020977dup
NG_007092.3:g.1021336_1021337dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1175_1176dup MANE Select	ENSP00000354778.3:p.Asp393ArgfsTer?
ENST00000636561.1:n.1078_1079dup
ENST00000636870.1:n.1037_1038dup
ENST00000637150.1:n.1104_1105dup
ENST00000637694.1:n.1078_1079dup
ENST00000637825.1:n.658_659dup
ENST00000638117.1:n.1078_1079dup
ENST00000361727.7:c.1175_1176dup	ENSP00000354778.3:p.Asp393ArgfsTer?
NM_014141.5:c.1175_1176dup	NP_054860.1:p.Asp393ArgfsTer?
XM_017011950.2:c.1175_1176dup	XP_016867439.1:p.Asp393ArgfsTer?
NM_014141.6:c.1175_1176dup MANE Select	NP_054860.1:p.Asp393ArgfsTer?