Canonical Allele Identifier: CA1750623678

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132230_147132231delinsCT , CM000669.2:g.147132230_147132231delinsCT	GRCh38
NC_000007.13:g.146829322_146829323delinsCT , CM000669.1:g.146829322_146829323delinsCT	GRCh37
NC_000007.12:g.146460255_146460256delinsCT	NCBI36
NG_007092.2:g.1020870_1020871delinsCT
NG_007092.3:g.1021230_1021231delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1084-15_1084-14delinsCT MANE Select	ENSP00000354778.3:n.1084-15_1084-14delins...
ENST00000636561.1:n.987-15_987-14delinsCT
ENST00000636870.1:n.946-15_946-14delinsCT
ENST00000637150.1:n.1013-15_1013-14delinsCT
ENST00000637694.1:n.987-15_987-14delinsCT
ENST00000637825.1:n.567-15_567-14delinsCT
ENST00000638117.1:n.987-15_987-14delinsCT
ENST00000361727.7:c.1084-15_1084-14delinsCT	ENSP00000354778.3:n.1084-15_1084-14delins...
NM_014141.5:c.1084-15_1084-14delinsCT	NP_054860.1:n.1084-15_1084-14delinsCT
XM_017011950.2:c.1084-15_1084-14delinsCT	XP_016867439.1:n.1084-15_1084-14delinsCT
NM_014141.6:c.1084-15_1084-14delinsCT MANE Select	NP_054860.1:n.1084-15_1084-14delinsCT