Canonical Allele Identifier: CA834841353

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1490143258
• MyVariant Identifiers: chr7:g.146475408_146475409insT (hg19) ; chr7:g.146778316_146778317insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146778319dup , CM000669.2:g.146778319dup	GRCh38
NC_000007.13:g.146475411dup , CM000669.1:g.146475411dup	GRCh37
NC_000007.12:g.146106344dup	NCBI36
NG_007092.2:g.666959dup
NG_007092.3:g.667319dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.208+3938dup MANE Select	ENSP00000354778.3:n.208+3938dup
ENST00000636277.1:n.75+3938dup
ENST00000636561.1:n.111+3938dup
ENST00000636600.1:n.59-3890dup
ENST00000637150.1:n.137+3938dup
ENST00000637694.1:n.111+3938dup
ENST00000638117.1:n.111+3938dup
ENST00000361727.7:c.208+3938dup	ENSP00000354778.3:n.208+3938dup
ENST00000625365.2:c.208+3938dup	ENSP00000485955.1:n.208+3938dup
NM_014141.5:c.208+3938dup	NP_054860.1:n.208+3938dup
XM_017011950.2:c.208+3938dup	XP_016867439.1:n.208+3938dup
NM_014141.6:c.208+3938dup MANE Select	NP_054860.1:n.208+3938dup