Canonical Allele Identifier: CA1750650088

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147190772_147190797delinsCATTAAACTATGTCACCGTTAGCCAG , CM000669.2:g.147190772_147190797delinsCATTAAACTATGTCACCGTTAGCCAG	GRCh38
NC_000007.13:g.146887864_146887889delinsCATTAAACTATGTCACCGTTAGCCAG , CM000669.1:g.146887864_146887889delinsCATTAAACTATGTCACCGTTAGCCAG	GRCh37
NC_000007.12:g.146518797_146518822delinsCATTAAACTATGTCACCGTTAGCCAG	NCBI36
NG_007092.2:g.1079412_1079437delinsCATTAAACTATGTCACCGTTAGCCAG
NG_007092.3:g.1079772_1079797delinsCATTAAACTATGTCACCGTTAGCCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1348+58263_1348+58288delinsCATTAAACTATGTCACCGTTAGCCAG MANE Select	ENSP00000354778.3:n.1348+58263_1348+58288...
ENST00000636870.1:n.1210+58263_1210+58288delinsCATTAAACTATGTCACCGTTAGCCAG
ENST00000637694.1:n.1251+58263_1251+58288delinsCATTAAACTATGTCACCGTTAGCCAG
ENST00000637825.1:n.831+58263_831+58288delinsCATTAAACTATGTCACCGTTAGCCAG
ENST00000638117.1:n.1251+58263_1251+58288delinsCATTAAACTATGTCACCGTTAGCCAG
ENST00000361727.7:c.1348+58263_1348+58288delinsCATTAAACTATGTCACCGTTAGCCAG	ENSP00000354778.3:n.1348+58263_1348+58288...
NM_014141.5:c.1348+58263_1348+58288delinsCATTAAACTATGTCACCGTTAGCCAG	NP_054860.1:n.1348+58263_1348+58288delins...
XM_017011950.2:c.1348+58263_1348+58288delinsCATTAAACTATGTCACCGTTAGCCAG	XP_016867439.1:n.1348+58263_1348+58288del...
NM_014141.6:c.1348+58263_1348+58288delinsCATTAAACTATGTCACCGTTAGCCAG MANE Select	NP_054860.1:n.1348+58263_1348+58288delins...