Canonical Allele Identifier: CA2685448837

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147132126-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132126_147132127insC , CM000669.2:g.147132126_147132127insC	GRCh38
NC_000007.13:g.146829218_146829219insC , CM000669.1:g.146829218_146829219insC	GRCh37
NC_000007.12:g.146460151_146460152insC	NCBI36
NG_007092.2:g.1020766_1020767insC
NG_007092.3:g.1021126_1021127insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1084-119_1084-118insC MANE Select	ENSP00000354778.3:n.1084-119_1084-118insC
ENST00000636561.1:n.987-119_987-118insC
ENST00000636870.1:n.946-119_946-118insC
ENST00000637150.1:n.1013-119_1013-118insC
ENST00000637694.1:n.987-119_987-118insC
ENST00000637825.1:n.567-119_567-118insC
ENST00000638117.1:n.987-119_987-118insC
ENST00000361727.7:c.1084-119_1084-118insC	ENSP00000354778.3:n.1084-119_1084-118insC
NM_014141.5:c.1084-119_1084-118insC	NP_054860.1:n.1084-119_1084-118insC
XM_017011950.2:c.1084-119_1084-118insC	XP_016867439.1:n.1084-119_1084-118insC
NM_014141.6:c.1084-119_1084-118insC MANE Select	NP_054860.1:n.1084-119_1084-118insC