Canonical Allele Identifier: CA834867305

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1239827383
• MyVariant Identifiers: chr7:g.146897627del (hg19) ; chr7:g.147200535del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147200538del , CM000669.2:g.147200538del	GRCh38
NC_000007.13:g.146897630del , CM000669.1:g.146897630del	GRCh37
NC_000007.12:g.146528563del	NCBI36
NG_007092.2:g.1089178del
NG_007092.3:g.1089538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+68029del MANE Select	ENSP00000354778.3:n.1348+68029del
ENST00000636870.1:n.1210+68029del
ENST00000637694.1:n.1251+68029del
ENST00000637825.1:n.831+68029del
ENST00000638117.1:n.1251+68029del
ENST00000361727.7:c.1348+68029del	ENSP00000354778.3:n.1348+68029del
NM_014141.5:c.1348+68029del	NP_054860.1:n.1348+68029del
XM_017011950.2:c.1348+68029del	XP_016867439.1:n.1348+68029del
NM_014141.6:c.1348+68029del MANE Select	NP_054860.1:n.1348+68029del