Canonical Allele Identifier: CA1750805271

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147491668_147491670delinsCAA , CM000669.2:g.147491668_147491670delinsCAA	GRCh38
NC_000007.13:g.147188760_147188762delinsCAA , CM000669.1:g.147188760_147188762delinsCAA	GRCh37
NC_000007.12:g.146819693_146819695delinsCAA	NCBI36
NG_007092.2:g.1380308_1380310delinsCAA
NG_007092.3:g.1380668_1380670delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1777+5627_1777+5629delinsCAA MANE Select	ENSP00000354778.3:n.1777+5627_1777+5629delinsCAA
ENST00000636870.1:n.1639+5627_1639+5629delinsCAA
ENST00000637694.1:n.1681-4953_1681-4951delinsCAA
ENST00000637825.1:n.1260+5627_1260+5629delinsCAA
ENST00000638117.1:n.1680+5627_1680+5629delinsCAA
ENST00000361727.7:c.1777+5627_1777+5629delinsCAA	ENSP00000354778.3:n.1777+5627_1777+5629delinsCAA
NM_014141.5:c.1777+5627_1777+5629delinsCAA	NP_054860.1:n.1777+5627_1777+5629delinsCAA
XM_006715919.1:c.265+5627_265+5629delinsCAA	XP_006715982.1:n.265+5627_265+5629delinsCAA
XM_017011950.2:c.1777+5627_1777+5629delinsCAA	XP_016867439.1:n.1777+5627_1777+5629delinsCAA
NM_014141.6:c.1777+5627_1777+5629delinsCAA MANE Select	NP_054860.1:n.1777+5627_1777+5629delinsCAA