Canonical Allele Identifier: CA2778338082

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147492592_147492599del , CM000669.2:g.147492592_147492599del	GRCh38
NC_000007.13:g.147189684_147189691del , CM000669.1:g.147189684_147189691del	GRCh37
NC_000007.12:g.146820617_146820624del	NCBI36
NG_007092.2:g.1381232_1381239del
NG_007092.3:g.1381592_1381599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1777+6551_1777+6558del MANE Select	ENSP00000354778.3:n.1777+6551_1777+6558del
ENST00000636870.1:n.1639+6551_1639+6558del
ENST00000637694.1:n.1681-4029_1681-4022del
ENST00000637825.1:n.1260+6551_1260+6558del
ENST00000638117.1:n.1680+6551_1680+6558del
ENST00000361727.7:c.1777+6551_1777+6558del	ENSP00000354778.3:n.1777+6551_1777+6558del
NM_014141.5:c.1777+6551_1777+6558del	NP_054860.1:n.1777+6551_1777+6558del
XM_006715919.1:c.265+6551_265+6558del	XP_006715982.1:n.265+6551_265+6558del
XM_017011950.2:c.1777+6551_1777+6558del	XP_016867439.1:n.1777+6551_1777+6558del
NM_014141.6:c.1777+6551_1777+6558del MANE Select	NP_054860.1:n.1777+6551_1777+6558del