Canonical Allele Identifier: CA1750654773

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147200129_147200130delinsTC , CM000669.2:g.147200129_147200130delinsTC	GRCh38
NC_000007.13:g.146897221_146897222delinsTC , CM000669.1:g.146897221_146897222delinsTC	GRCh37
NC_000007.12:g.146528154_146528155delinsTC	NCBI36
NG_007092.2:g.1088769_1088770delinsTC
NG_007092.3:g.1089129_1089130delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+67620_1348+67621delinsTC MANE Select	ENSP00000354778.3:n.1348+67620_1348+67621delinsTC
ENST00000636870.1:n.1210+67620_1210+67621delinsTC
ENST00000637694.1:n.1251+67620_1251+67621delinsTC
ENST00000637825.1:n.831+67620_831+67621delinsTC
ENST00000638117.1:n.1251+67620_1251+67621delinsTC
ENST00000361727.7:c.1348+67620_1348+67621delinsTC	ENSP00000354778.3:n.1348+67620_1348+67621delinsTC
NM_014141.5:c.1348+67620_1348+67621delinsTC	NP_054860.1:n.1348+67620_1348+67621delinsTC
XM_017011950.2:c.1348+67620_1348+67621delinsTC	XP_016867439.1:n.1348+67620_1348+67621delinsTC
NM_014141.6:c.1348+67620_1348+67621delinsTC MANE Select	NP_054860.1:n.1348+67620_1348+67621delinsTC