Canonical Allele Identifier: CA1750805297

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1798613116

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147491712_147491716dup , CM000669.2:g.147491712_147491716dup	GRCh38
NC_000007.13:g.147188804_147188808dup , CM000669.1:g.147188804_147188808dup	GRCh37
NC_000007.12:g.146819737_146819741dup	NCBI36
NG_007092.2:g.1380352_1380356dup
NG_007092.3:g.1380712_1380716dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1777+5671_1777+5675dup MANE Select	ENSP00000354778.3:n.1777+5671_1777+5675dup
ENST00000636870.1:n.1639+5671_1639+5675dup
ENST00000637694.1:n.1681-4909_1681-4905dup
ENST00000637825.1:n.1260+5671_1260+5675dup
ENST00000638117.1:n.1680+5671_1680+5675dup
ENST00000361727.7:c.1777+5671_1777+5675dup	ENSP00000354778.3:n.1777+5671_1777+5675dup
NM_014141.5:c.1777+5671_1777+5675dup	NP_054860.1:n.1777+5671_1777+5675dup
XM_006715919.1:c.265+5671_265+5675dup	XP_006715982.1:n.265+5671_265+5675dup
XM_017011950.2:c.1777+5671_1777+5675dup	XP_016867439.1:n.1777+5671_1777+5675dup
NM_014141.6:c.1777+5671_1777+5675dup MANE Select	NP_054860.1:n.1777+5671_1777+5675dup