Canonical Allele Identifier: CA834867184

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1437550758
• gnomAD v3: 7-147200292-CA-C
• gnomAD v4: 7-147200292-CA-C
• MyVariant Identifiers: chr7:g.146897385del (hg19) ; chr7:g.147200293del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147200294del , CM000669.2:g.147200294del	GRCh38
NC_000007.13:g.146897386del , CM000669.1:g.146897386del	GRCh37
NC_000007.12:g.146528319del	NCBI36
NG_007092.2:g.1088934del
NG_007092.3:g.1089294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+67785del MANE Select	ENSP00000354778.3:n.1348+67785del
ENST00000636870.1:n.1210+67785del
ENST00000637694.1:n.1251+67785del
ENST00000637825.1:n.831+67785del
ENST00000638117.1:n.1251+67785del
ENST00000361727.7:c.1348+67785del	ENSP00000354778.3:n.1348+67785del
NM_014141.5:c.1348+67785del	NP_054860.1:n.1348+67785del
XM_017011950.2:c.1348+67785del	XP_016867439.1:n.1348+67785del
NM_014141.6:c.1348+67785del MANE Select	NP_054860.1:n.1348+67785del