Canonical Allele Identifier: CA1750805245

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1798611024

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147491629del , CM000669.2:g.147491629del	GRCh38
NC_000007.13:g.147188721del , CM000669.1:g.147188721del	GRCh37
NC_000007.12:g.146819654del	NCBI36
NG_007092.2:g.1380269del
NG_007092.3:g.1380629del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1777+5588del MANE Select	ENSP00000354778.3:n.1777+5588del
ENST00000636870.1:n.1639+5588del
ENST00000637694.1:n.1681-4992del
ENST00000637825.1:n.1260+5588del
ENST00000638117.1:n.1680+5588del
ENST00000361727.7:c.1777+5588del	ENSP00000354778.3:n.1777+5588del
NM_014141.5:c.1777+5588del	NP_054860.1:n.1777+5588del
XM_006715919.1:c.265+5588del	XP_006715982.1:n.265+5588del
XM_017011950.2:c.1777+5588del	XP_016867439.1:n.1777+5588del
NM_014141.6:c.1777+5588del MANE Select	NP_054860.1:n.1777+5588del