Canonical Allele Identifier: CA1750805790
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1798630236

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147492709_147492710del , CM000669.2:g.147492709_147492710del GRCh38
NC_000007.13:g.147189801_147189802del , CM000669.1:g.147189801_147189802del GRCh37
NC_000007.12:g.146820734_146820735del NCBI36
NG_007092.2:g.1381349_1381350del
NG_007092.3:g.1381709_1381710del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1777+6668_1777+6669del MANE Select ENSP00000354778.3:n.1777+6668_1777+6669del
ENST00000636870.1:n.1639+6668_1639+6669del
ENST00000637694.1:n.1681-3912_1681-3911del
ENST00000637825.1:n.1260+6668_1260+6669del
ENST00000638117.1:n.1680+6668_1680+6669del
ENST00000361727.7:c.1777+6668_1777+6669del ENSP00000354778.3:n.1777+6668_1777+6669del
NM_014141.5:c.1777+6668_1777+6669del NP_054860.1:n.1777+6668_1777+6669del
XM_006715919.1:c.265+6668_265+6669del XP_006715982.1:n.265+6668_265+6669del
XM_017011950.2:c.1777+6668_1777+6669del XP_016867439.1:n.1777+6668_1777+6669del
NM_014141.6:c.1777+6668_1777+6669del MANE Select NP_054860.1:n.1777+6668_1777+6669del