Canonical Allele Identifier: CA1750805728

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147492579_147492581delinsCAG , CM000669.2:g.147492579_147492581delinsCAG	GRCh38
NC_000007.13:g.147189671_147189673delinsCAG , CM000669.1:g.147189671_147189673delinsCAG	GRCh37
NC_000007.12:g.146820604_146820606delinsCAG	NCBI36
NG_007092.2:g.1381219_1381221delinsCAG
NG_007092.3:g.1381579_1381581delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1777+6538_1777+6540delinsCAG MANE Select	ENSP00000354778.3:n.1777+6538_1777+6540delinsCAG
ENST00000636870.1:n.1639+6538_1639+6540delinsCAG
ENST00000637694.1:n.1681-4042_1681-4040delinsCAG
ENST00000637825.1:n.1260+6538_1260+6540delinsCAG
ENST00000638117.1:n.1680+6538_1680+6540delinsCAG
ENST00000361727.7:c.1777+6538_1777+6540delinsCAG	ENSP00000354778.3:n.1777+6538_1777+6540delinsCAG
NM_014141.5:c.1777+6538_1777+6540delinsCAG	NP_054860.1:n.1777+6538_1777+6540delinsCAG
XM_006715919.1:c.265+6538_265+6540delinsCAG	XP_006715982.1:n.265+6538_265+6540delinsCAG
XM_017011950.2:c.1777+6538_1777+6540delinsCAG	XP_016867439.1:n.1777+6538_1777+6540delinsCAG
NM_014141.6:c.1777+6538_1777+6540delinsCAG MANE Select	NP_054860.1:n.1777+6538_1777+6540delinsCAG