Canonical Allele Identifier: CA645558557

Gene: CNTNAP2

Linked Data

• COSMIC: COSM5872152

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132266del , CM000669.2:g.147132266del	GRCh38
NC_000007.13:g.146829358del , CM000669.1:g.146829358del	GRCh37
NC_000007.12:g.146460291del	NCBI36
NG_007092.2:g.1020906del
NG_007092.3:g.1021266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1105del MANE Select	ENSP00000354778.3:p.Val369TrpfsTer?
ENST00000636561.1:n.1008del
ENST00000636870.1:n.967del
ENST00000637150.1:n.1034del
ENST00000637694.1:n.1008del
ENST00000637825.1:n.588del
ENST00000638117.1:n.1008del
ENST00000361727.7:c.1105del	ENSP00000354778.3:p.Val369TrpfsTer?
NM_014141.5:c.1105del	NP_054860.1:p.Val369TrpfsTer?
XM_017011950.2:c.1105del	XP_016867439.1:p.Val369TrpfsTer?
NM_014141.6:c.1105del MANE Select	NP_054860.1:p.Val369TrpfsTer?