Canonical Allele Identifier: CA1750623569

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132131_147132132delinsGC , CM000669.2:g.147132131_147132132delinsGC	GRCh38
NC_000007.13:g.146829223_146829224delinsGC , CM000669.1:g.146829223_146829224delinsGC	GRCh37
NC_000007.12:g.146460156_146460157delinsGC	NCBI36
NG_007092.2:g.1020771_1020772delinsGC
NG_007092.3:g.1021131_1021132delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1084-114_1084-113delinsGC MANE Select	ENSP00000354778.3:n.1084-114_1084-113delinsGC
ENST00000636561.1:n.987-114_987-113delinsGC
ENST00000636870.1:n.946-114_946-113delinsGC
ENST00000637150.1:n.1013-114_1013-113delinsGC
ENST00000637694.1:n.987-114_987-113delinsGC
ENST00000637825.1:n.567-114_567-113delinsGC
ENST00000638117.1:n.987-114_987-113delinsGC
ENST00000361727.7:c.1084-114_1084-113delinsGC	ENSP00000354778.3:n.1084-114_1084-113delinsGC
NM_014141.5:c.1084-114_1084-113delinsGC	NP_054860.1:n.1084-114_1084-113delinsGC
XM_017011950.2:c.1084-114_1084-113delinsGC	XP_016867439.1:n.1084-114_1084-113delinsGC
NM_014141.6:c.1084-114_1084-113delinsGC MANE Select	NP_054860.1:n.1084-114_1084-113delinsGC