Canonical Allele Identifier: CA2778326603

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132484_147132485insTAAGCGTCTTGAAGATCTGA , CM000669.2:g.147132484_147132485insTAAGCGTCTTGAAGATCTGA	GRCh38
NC_000007.13:g.146829576_146829577insTAAGCGTCTTGAAGATCTGA , CM000669.1:g.146829576_146829577insTAAGCGTCTTGAAGATCTGA	GRCh37
NC_000007.12:g.146460509_146460510insTAAGCGTCTTGAAGATCTGA	NCBI36
NG_007092.2:g.1021124_1021125insTAAGCGTCTTGAAGATCTGA
NG_007092.3:g.1021484_1021485insTAAGCGTCTTGAAGATCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1323_1324insTAAGCGTCTTGAAGATCTGA MANE Select	ENSP00000354778.3:p.Met442Ter
ENST00000636561.1:n.1226_1227insTAAGCGTCTTGAAGATCTGA
ENST00000636870.1:n.1185_1186insTAAGCGTCTTGAAGATCTGA
ENST00000637150.1:n.1252_1253insTAAGCGTCTTGAAGATCTGA
ENST00000637694.1:n.1226_1227insTAAGCGTCTTGAAGATCTGA
ENST00000637825.1:n.806_807insTAAGCGTCTTGAAGATCTGA
ENST00000638117.1:n.1226_1227insTAAGCGTCTTGAAGATCTGA
ENST00000361727.7:c.1323_1324insTAAGCGTCTTGAAGATCTGA	ENSP00000354778.3:p.Met442Ter
NM_014141.5:c.1323_1324insTAAGCGTCTTGAAGATCTGA	NP_054860.1:p.Met442Ter
XM_017011950.2:c.1323_1324insTAAGCGTCTTGAAGATCTGA	XP_016867439.1:p.Met442Ter
NM_014141.6:c.1323_1324insTAAGCGTCTTGAAGATCTGA MANE Select	NP_054860.1:p.Met442Ter