Canonical Allele Identifier: CA834858986

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1305422331
• gnomAD v4: 7-147132123-TGA-T
• MyVariant Identifiers: chr7:g.146829216_146829217del (hg19) ; chr7:g.147132124_147132125del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132125_147132126del , CM000669.2:g.147132125_147132126del	GRCh38
NC_000007.13:g.146829217_146829218del , CM000669.1:g.146829217_146829218del	GRCh37
NC_000007.12:g.146460150_146460151del	NCBI36
NG_007092.2:g.1020765_1020766del
NG_007092.3:g.1021125_1021126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1084-120_1084-119del MANE Select	ENSP00000354778.3:n.1084-120_1084-119del
ENST00000636561.1:n.987-120_987-119del
ENST00000636870.1:n.946-120_946-119del
ENST00000637150.1:n.1013-120_1013-119del
ENST00000637694.1:n.987-120_987-119del
ENST00000637825.1:n.567-120_567-119del
ENST00000638117.1:n.987-120_987-119del
ENST00000361727.7:c.1084-120_1084-119del	ENSP00000354778.3:n.1084-120_1084-119del
NM_014141.5:c.1084-120_1084-119del	NP_054860.1:n.1084-120_1084-119del
XM_017011950.2:c.1084-120_1084-119del	XP_016867439.1:n.1084-120_1084-119del
NM_014141.6:c.1084-120_1084-119del MANE Select	NP_054860.1:n.1084-120_1084-119del