Canonical Allele Identifier: CA2685448927

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147132611-A-AAAACCTAATCCTGAGCGT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132611_147132612insAAACCTAATCCTGAGCGT , CM000669.2:g.147132611_147132612insAAACCTAATCCTGAGCGT	GRCh38
NC_000007.13:g.146829703_146829704insAAACCTAATCCTGAGCGT , CM000669.1:g.146829703_146829704insAAACCTAATCCTGAGCGT	GRCh37
NC_000007.12:g.146460636_146460637insAAACCTAATCCTGAGCGT	NCBI36
NG_007092.2:g.1021251_1021252insAAACCTAATCCTGAGCGT
NG_007092.3:g.1021611_1021612insAAACCTAATCCTGAGCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+102_1348+103insAAACCTAATCCTGAGCGT MANE Select	ENSP00000354778.3:n.1348+102_1348+103insAAACCTAATCCTGAGCGT
ENST00000636561.1:n.1251+102_1251+103insAAACCTAATCCTGAGCGT
ENST00000636870.1:n.1210+102_1210+103insAAACCTAATCCTGAGCGT
ENST00000637150.1:n.1277+102_1277+103insAAACCTAATCCTGAGCGT
ENST00000637694.1:n.1251+102_1251+103insAAACCTAATCCTGAGCGT
ENST00000637825.1:n.831+102_831+103insAAACCTAATCCTGAGCGT
ENST00000638117.1:n.1251+102_1251+103insAAACCTAATCCTGAGCGT
ENST00000361727.7:c.1348+102_1348+103insAAACCTAATCCTGAGCGT	ENSP00000354778.3:n.1348+102_1348+103insAAACCTAATCCTGAGCGT
NM_014141.5:c.1348+102_1348+103insAAACCTAATCCTGAGCGT	NP_054860.1:n.1348+102_1348+103insAAACCTAATCCTGAGCGT
XM_017011950.2:c.1348+102_1348+103insAAACCTAATCCTGAGCGT	XP_016867439.1:n.1348+102_1348+103insAAACCTAATCCTGAGCGT
NM_014141.6:c.1348+102_1348+103insAAACCTAATCCTGAGCGT MANE Select	NP_054860.1:n.1348+102_1348+103insAAACCTAATCCTGAGCGT