Canonical Allele Identifier: CA834896991

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1206733984
• gnomAD v3: 7-147571124-T-TTTA
• gnomAD v4: 7-147571124-T-TTTA
• MyVariant Identifiers: chr7:g.147268216_147268217insTTA (hg19) ; chr7:g.147571124_147571125insTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147571135_147571137dup , CM000669.2:g.147571135_147571137dup	GRCh38
NC_000007.13:g.147268227_147268229dup , CM000669.1:g.147268227_147268229dup	GRCh37
NC_000007.12:g.146899160_146899162dup	NCBI36
NG_007092.2:g.1459775_1459777dup
NG_007092.3:g.1460135_1460137dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1897+8878_1897+8880dup MANE Select	ENSP00000354778.3:n.1897+8878_1897+8880dup
ENST00000636870.1:n.1759+8878_1759+8880dup
ENST00000637825.1:n.1380+8878_1380+8880dup
ENST00000638117.1:n.1800+8878_1800+8880dup
ENST00000361727.7:c.1897+8878_1897+8880dup	ENSP00000354778.3:n.1897+8878_1897+8880dup
NM_014141.5:c.1897+8878_1897+8880dup	NP_054860.1:n.1897+8878_1897+8880dup
XM_006715919.1:c.385+8878_385+8880dup	XP_006715982.1:n.385+8878_385+8880dup
XM_017011950.2:c.1897+8878_1897+8880dup	XP_016867439.1:n.1897+8878_1897+8880dup
NM_014141.6:c.1897+8878_1897+8880dup MANE Select	NP_054860.1:n.1897+8878_1897+8880dup