Canonical Allele Identifier: CA834841215

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1227661622
• MyVariant Identifiers: chr7:g.146475174_146475176del (hg19) ; chr7:g.146778082_146778084del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146778085_146778087del , CM000669.2:g.146778085_146778087del	GRCh38
NC_000007.13:g.146475177_146475179del , CM000669.1:g.146475177_146475179del	GRCh37
NC_000007.12:g.146106110_146106112del	NCBI36
NG_007092.2:g.666725_666727del
NG_007092.3:g.667085_667087del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.208+3704_208+3706del MANE Select	ENSP00000354778.3:n.208+3704_208+3706del
ENST00000636277.1:n.75+3704_75+3706del
ENST00000636561.1:n.111+3704_111+3706del
ENST00000636600.1:n.58+3704_58+3706del
ENST00000637150.1:n.137+3704_137+3706del
ENST00000637694.1:n.111+3704_111+3706del
ENST00000638117.1:n.111+3704_111+3706del
ENST00000361727.7:c.208+3704_208+3706del	ENSP00000354778.3:n.208+3704_208+3706del
ENST00000625365.2:c.208+3704_208+3706del	ENSP00000485955.1:n.208+3704_208+3706del
NM_014141.5:c.208+3704_208+3706del	NP_054860.1:n.208+3704_208+3706del
XM_017011950.2:c.208+3704_208+3706del	XP_016867439.1:n.208+3704_208+3706del
NM_014141.6:c.208+3704_208+3706del MANE Select	NP_054860.1:n.208+3704_208+3706del