Canonical Allele Identifier: CA2509140790

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147571115_147571116insAAGTAAA , CM000669.2:g.147571115_147571116insAAGTAAA	GRCh38
NC_000007.13:g.147268207_147268208insAAGTAAA , CM000669.1:g.147268207_147268208insAAGTAAA	GRCh37
NC_000007.12:g.146899140_146899141insAAGTAAA	NCBI36
NG_007092.2:g.1459755_1459756insAAGTAAA
NG_007092.3:g.1460115_1460116insAAGTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1897+8858_1897+8859insAAGTAAA MANE Select	ENSP00000354778.3:n.1897+8858_1897+8859insAAGTAAA
ENST00000636870.1:n.1759+8858_1759+8859insAAGTAAA
ENST00000637825.1:n.1380+8858_1380+8859insAAGTAAA
ENST00000638117.1:n.1800+8858_1800+8859insAAGTAAA
ENST00000361727.7:c.1897+8858_1897+8859insAAGTAAA	ENSP00000354778.3:n.1897+8858_1897+8859insAAGTAAA
NM_014141.5:c.1897+8858_1897+8859insAAGTAAA	NP_054860.1:n.1897+8858_1897+8859insAAGTAAA
XM_006715919.1:c.385+8858_385+8859insAAGTAAA	XP_006715982.1:n.385+8858_385+8859insAAGTAAA
XM_017011950.2:c.1897+8858_1897+8859insAAGTAAA	XP_016867439.1:n.1897+8858_1897+8859insAAGTAAA
NM_014141.6:c.1897+8858_1897+8859insAAGTAAA MANE Select	NP_054860.1:n.1897+8858_1897+8859insAAGTAAA