Canonical Allele Identifier: CA1750619912

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132841_147132843delinsAAC , CM000669.2:g.147132841_147132843delinsAAC	GRCh38
NC_000007.13:g.146829933_146829935delinsAAC , CM000669.1:g.146829933_146829935delinsAAC	GRCh37
NC_000007.12:g.146460866_146460868delinsAAC	NCBI36
NG_007092.2:g.1021481_1021483delinsAAC
NG_007092.3:g.1021841_1021843delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+332_1348+334delinsAAC MANE Select	ENSP00000354778.3:n.1348+332_1348+334delinsAAC
ENST00000636561.1:n.1251+332_1251+334delinsAAC
ENST00000636870.1:n.1210+332_1210+334delinsAAC
ENST00000637150.1:n.1277+332_1277+334delinsAAC
ENST00000637694.1:n.1251+332_1251+334delinsAAC
ENST00000637825.1:n.831+332_831+334delinsAAC
ENST00000638117.1:n.1251+332_1251+334delinsAAC
ENST00000361727.7:c.1348+332_1348+334delinsAAC	ENSP00000354778.3:n.1348+332_1348+334delinsAAC
NM_014141.5:c.1348+332_1348+334delinsAAC	NP_054860.1:n.1348+332_1348+334delinsAAC
XM_017011950.2:c.1348+332_1348+334delinsAAC	XP_016867439.1:n.1348+332_1348+334delinsAAC
NM_014141.6:c.1348+332_1348+334delinsAAC MANE Select	NP_054860.1:n.1348+332_1348+334delinsAAC