Canonical Allele Identifier: CA1750623681

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 1578884
• ClinVar RCV Id: RCV002102348
• dbSNP Id: rs1801388833

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132233del , CM000669.2:g.147132233del	GRCh38
NC_000007.13:g.146829325del , CM000669.1:g.146829325del	GRCh37
NC_000007.12:g.146460258del	NCBI36
NG_007092.2:g.1020873del
NG_007092.3:g.1021233del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1084-12del MANE Select	ENSP00000354778.3:n.1084-12del
ENST00000636561.1:n.987-12del
ENST00000636870.1:n.946-12del
ENST00000637150.1:n.1013-12del
ENST00000637694.1:n.987-12del
ENST00000637825.1:n.567-12del
ENST00000638117.1:n.987-12del
ENST00000361727.7:c.1084-12del	ENSP00000354778.3:n.1084-12del
NM_014141.5:c.1084-12del	NP_054860.1:n.1084-12del
XM_017011950.2:c.1084-12del	XP_016867439.1:n.1084-12del
NM_014141.6:c.1084-12del MANE Select	NP_054860.1:n.1084-12del