Canonical Allele Identifier: CA1750841506
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1800278127

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571030_147571031insAT , CM000669.2:g.147571030_147571031insAT GRCh38
NC_000007.13:g.147268122_147268123insAT , CM000669.1:g.147268122_147268123insAT GRCh37
NC_000007.12:g.146899055_146899056insAT NCBI36
NG_007092.2:g.1459670_1459671insAT
NG_007092.3:g.1460030_1460031insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+8773_1897+8774insAT MANE Select ENSP00000354778.3:n.1897+8773_1897+8774insAT
ENST00000636870.1:n.1759+8773_1759+8774insAT
ENST00000637825.1:n.1380+8773_1380+8774insAT
ENST00000638117.1:n.1800+8773_1800+8774insAT
ENST00000361727.7:c.1897+8773_1897+8774insAT ENSP00000354778.3:n.1897+8773_1897+8774insAT
NM_014141.5:c.1897+8773_1897+8774insAT NP_054860.1:n.1897+8773_1897+8774insAT
XM_006715919.1:c.385+8773_385+8774insAT XP_006715982.1:n.385+8773_385+8774insAT
XM_017011950.2:c.1897+8773_1897+8774insAT XP_016867439.1:n.1897+8773_1897+8774insAT
NM_014141.6:c.1897+8773_1897+8774insAT MANE Select NP_054860.1:n.1897+8773_1897+8774insAT