Canonical Allele Identifier: CA2517431965

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147571114_147571115insAGAAGTAAATT , CM000669.2:g.147571114_147571115insAGAAGTAAATT	GRCh38
NC_000007.13:g.147268206_147268207insAGAAGTAAATT , CM000669.1:g.147268206_147268207insAGAAGTAAATT	GRCh37
NC_000007.12:g.146899139_146899140insAGAAGTAAATT	NCBI36
NG_007092.2:g.1459754_1459755insAGAAGTAAATT
NG_007092.3:g.1460114_1460115insAGAAGTAAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1897+8857_1897+8858insAGAAGTAAATT MANE Select	ENSP00000354778.3:n.1897+8857_1897+8858insAGAAGTAAATT
ENST00000636870.1:n.1759+8857_1759+8858insAGAAGTAAATT
ENST00000637825.1:n.1380+8857_1380+8858insAGAAGTAAATT
ENST00000638117.1:n.1800+8857_1800+8858insAGAAGTAAATT
ENST00000361727.7:c.1897+8857_1897+8858insAGAAGTAAATT	ENSP00000354778.3:n.1897+8857_1897+8858insAGAAGTAAATT
NM_014141.5:c.1897+8857_1897+8858insAGAAGTAAATT	NP_054860.1:n.1897+8857_1897+8858insAGAAGTAAATT
XM_006715919.1:c.385+8857_385+8858insAGAAGTAAATT	XP_006715982.1:n.385+8857_385+8858insAGAAGTAAATT
XM_017011950.2:c.1897+8857_1897+8858insAGAAGTAAATT	XP_016867439.1:n.1897+8857_1897+8858insAGAAGTAAATT
NM_014141.6:c.1897+8857_1897+8858insAGAAGTAAATT MANE Select	NP_054860.1:n.1897+8857_1897+8858insAGAAGTAAATT