Canonical Allele Identifier: CA1750805262

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147491653_147491681delinsAGCATTCTTGAATGTCAAAGAGTATCCAG , CM000669.2:g.147491653_147491681delinsAGCATTCTTGAATGTCAAAGAGTATCCAG	GRCh38
NC_000007.13:g.147188745_147188773delinsAGCATTCTTGAATGTCAAAGAGTATCCAG , CM000669.1:g.147188745_147188773delinsAGCATTCTTGAATGTCAAAGAGTATCCAG	GRCh37
NC_000007.12:g.146819678_146819706delinsAGCATTCTTGAATGTCAAAGAGTATCCAG	NCBI36
NG_007092.2:g.1380293_1380321delinsAGCATTCTTGAATGTCAAAGAGTATCCAG
NG_007092.3:g.1380653_1380681delinsAGCATTCTTGAATGTCAAAGAGTATCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1777+5612_1777+5640delinsAGCATTCTTGAATGTCAAAGAGTATCCAG MANE Select	ENSP00000354778.3:n.1777+5612_1777+5640delinsAGCATTCTTGAATGTC...
ENST00000636870.1:n.1639+5612_1639+5640delinsAGCATTCTTGAATGTCAAAGAGTATCCAG
ENST00000637694.1:n.1681-4968_1681-4940delinsAGCATTCTTGAATGTCAAAGAGTATCCAG
ENST00000637825.1:n.1260+5612_1260+5640delinsAGCATTCTTGAATGTCAAAGAGTATCCAG
ENST00000638117.1:n.1680+5612_1680+5640delinsAGCATTCTTGAATGTCAAAGAGTATCCAG
ENST00000361727.7:c.1777+5612_1777+5640delinsAGCATTCTTGAATGTCAAAGAGTATCCAG	ENSP00000354778.3:n.1777+5612_1777+5640delinsAGCATTCTTGAATGTC...
NM_014141.5:c.1777+5612_1777+5640delinsAGCATTCTTGAATGTCAAAGAGTATCCAG	NP_054860.1:n.1777+5612_1777+5640delinsAGCATTCTTGAATGTCAAAGAG...
XM_006715919.1:c.265+5612_265+5640delinsAGCATTCTTGAATGTCAAAGAGTATCCAG	XP_006715982.1:n.265+5612_265+5640delinsAGCATTCTTGAATGTCAAAGA...
XM_017011950.2:c.1777+5612_1777+5640delinsAGCATTCTTGAATGTCAAAGAGTATCCAG	XP_016867439.1:n.1777+5612_1777+5640delinsAGCATTCTTGAATGTCAAA...
NM_014141.6:c.1777+5612_1777+5640delinsAGCATTCTTGAATGTCAAAGAGTATCCAG MANE Select	NP_054860.1:n.1777+5612_1777+5640delinsAGCATTCTTGAATGTCAAAGAG...