Canonical Allele Identifier: CA578853023

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs577485310
• gnomAD v2: 7-147268210-CTTT-C
• MyVariant Identifiers: chr7:g.147268211_147268213del (hg19) ; chr7:g.147571119_147571121del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147571124_147571126del , CM000669.2:g.147571124_147571126del	GRCh38
NC_000007.13:g.147268216_147268218del , CM000669.1:g.147268216_147268218del	GRCh37
NC_000007.12:g.146899149_146899151del	NCBI36
NG_007092.2:g.1459764_1459766del
NG_007092.3:g.1460124_1460126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1897+8867_1897+8869del MANE Select	ENSP00000354778.3:n.1897+8867_1897+8869del
ENST00000636870.1:n.1759+8867_1759+8869del
ENST00000637825.1:n.1380+8867_1380+8869del
ENST00000638117.1:n.1800+8867_1800+8869del
ENST00000361727.7:c.1897+8867_1897+8869del	ENSP00000354778.3:n.1897+8867_1897+8869del
NM_014141.5:c.1897+8867_1897+8869del	NP_054860.1:n.1897+8867_1897+8869del
XM_006715919.1:c.385+8867_385+8869del	XP_006715982.1:n.385+8867_385+8869del
XM_017011950.2:c.1897+8867_1897+8869del	XP_016867439.1:n.1897+8867_1897+8869del
NM_014141.6:c.1897+8867_1897+8869del MANE Select	NP_054860.1:n.1897+8867_1897+8869del