Canonical Allele Identifier: CA1750841522

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147571043_147571044delinsGT , CM000669.2:g.147571043_147571044delinsGT	GRCh38
NC_000007.13:g.147268135_147268136delinsGT , CM000669.1:g.147268135_147268136delinsGT	GRCh37
NC_000007.12:g.146899068_146899069delinsGT	NCBI36
NG_007092.2:g.1459683_1459684delinsGT
NG_007092.3:g.1460043_1460044delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1897+8786_1897+8787delinsGT MANE Select	ENSP00000354778.3:n.1897+8786_1897+8787delinsGT
ENST00000636870.1:n.1759+8786_1759+8787delinsGT
ENST00000637825.1:n.1380+8786_1380+8787delinsGT
ENST00000638117.1:n.1800+8786_1800+8787delinsGT
ENST00000361727.7:c.1897+8786_1897+8787delinsGT	ENSP00000354778.3:n.1897+8786_1897+8787delinsGT
NM_014141.5:c.1897+8786_1897+8787delinsGT	NP_054860.1:n.1897+8786_1897+8787delinsGT
XM_006715919.1:c.385+8786_385+8787delinsGT	XP_006715982.1:n.385+8786_385+8787delinsGT
XM_017011950.2:c.1897+8786_1897+8787delinsGT	XP_016867439.1:n.1897+8786_1897+8787delinsGT
NM_014141.6:c.1897+8786_1897+8787delinsGT MANE Select	NP_054860.1:n.1897+8786_1897+8787delinsGT