Canonical Allele Identifier: CA2778326602

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132476_147132477insTACAACCAAGTAAGCGTCTTGA , CM000669.2:g.147132476_147132477insTACAACCAAGTAAGCGTCTTGA	GRCh38
NC_000007.13:g.146829568_146829569insTACAACCAAGTAAGCGTCTTGA , CM000669.1:g.146829568_146829569insTACAACCAAGTAAGCGTCTTGA	GRCh37
NC_000007.12:g.146460501_146460502insTACAACCAAGTAAGCGTCTTGA	NCBI36
NG_007092.2:g.1021116_1021117insTACAACCAAGTAAGCGTCTTGA
NG_007092.3:g.1021476_1021477insTACAACCAAGTAAGCGTCTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1315_1316insTACAACCAAGTAAGCGTCTTGA MANE Select	ENSP00000354778.3:p.Gln439LeufsTer24
ENST00000636561.1:n.1218_1219insTACAACCAAGTAAGCGTCTTGA
ENST00000636870.1:n.1177_1178insTACAACCAAGTAAGCGTCTTGA
ENST00000637150.1:n.1244_1245insTACAACCAAGTAAGCGTCTTGA
ENST00000637694.1:n.1218_1219insTACAACCAAGTAAGCGTCTTGA
ENST00000637825.1:n.798_799insTACAACCAAGTAAGCGTCTTGA
ENST00000638117.1:n.1218_1219insTACAACCAAGTAAGCGTCTTGA
ENST00000361727.7:c.1315_1316insTACAACCAAGTAAGCGTCTTGA	ENSP00000354778.3:p.Gln439LeufsTer24
NM_014141.5:c.1315_1316insTACAACCAAGTAAGCGTCTTGA	NP_054860.1:p.Gln439LeufsTer24
XM_017011950.2:c.1315_1316insTACAACCAAGTAAGCGTCTTGA	XP_016867439.1:p.Gln439LeufsTer24
NM_014141.6:c.1315_1316insTACAACCAAGTAAGCGTCTTGA MANE Select	NP_054860.1:p.Gln439LeufsTer24