Canonical Allele Identifier: CA834914618

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1384599468
• gnomAD v3: 7-147882765-AGAC-A
• gnomAD v4: 7-147882765-AGAC-A
• MyVariant Identifiers: chr7:g.147579858_147579860del (hg19) ; chr7:g.147882766_147882768del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147882766_147882768del , CM000669.2:g.147882766_147882768del	GRCh38
NC_000007.13:g.147579858_147579860del , CM000669.1:g.147579858_147579860del	GRCh37
NC_000007.12:g.147210791_147210793del	NCBI36
NG_007092.2:g.1771406_1771408del
NG_007092.3:g.1771766_1771768del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2099-20799_2099-20797del MANE Select	ENSP00000354778.3:n.2099-20799_2099-20797del
ENST00000636870.1:n.1961-20799_1961-20797del
ENST00000637825.1:n.1582-20799_1582-20797del
ENST00000361727.7:c.2099-20799_2099-20797del	ENSP00000354778.3:n.2099-20799_2099-20797del
ENST00000455301.2:n.34-20799_34-20797del
ENST00000627772.2:n.272-20799_272-20797del
NM_014141.5:c.2099-20799_2099-20797del	NP_054860.1:n.2099-20799_2099-20797del
XM_006715919.1:c.587-20799_587-20797del	XP_006715982.1:n.587-20799_587-20797del
NM_014141.6:c.2099-20799_2099-20797del MANE Select	NP_054860.1:n.2099-20799_2099-20797del