Canonical Allele Identifier: CA168745642
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs577485310

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571126del , CM000669.2:g.147571126del GRCh38
NC_000007.13:g.147268218del , CM000669.1:g.147268218del GRCh37
NC_000007.12:g.146899151del NCBI36
NG_007092.2:g.1459766del
NG_007092.3:g.1460126del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+8869del MANE Select ENSP00000354778.3:n.1897+8869del
ENST00000636870.1:n.1759+8869del
ENST00000637825.1:n.1380+8869del
ENST00000638117.1:n.1800+8869del
ENST00000361727.7:c.1897+8869del ENSP00000354778.3:n.1897+8869del
NM_014141.5:c.1897+8869del NP_054860.1:n.1897+8869del
XM_006715919.1:c.385+8869del XP_006715982.1:n.385+8869del
XM_017011950.2:c.1897+8869del XP_016867439.1:n.1897+8869del
NM_014141.6:c.1897+8869del MANE Select NP_054860.1:n.1897+8869del