Canonical Allele Identifier: CA1750624330

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132446_147132447delinsAG , CM000669.2:g.147132446_147132447delinsAG	GRCh38
NC_000007.13:g.146829538_146829539delinsAG , CM000669.1:g.146829538_146829539delinsAG	GRCh37
NC_000007.12:g.146460471_146460472delinsAG	NCBI36
NG_007092.2:g.1021086_1021087delinsAG
NG_007092.3:g.1021446_1021447delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1285_1286delinsAG MANE Select	ENSP00000354778.3:p.Ser429=
ENST00000636561.1:n.1188_1189delinsAG
ENST00000636870.1:n.1147_1148delinsAG
ENST00000637150.1:n.1214_1215delinsAG
ENST00000637694.1:n.1188_1189delinsAG
ENST00000637825.1:n.768_769delinsAG
ENST00000638117.1:n.1188_1189delinsAG
ENST00000361727.7:c.1285_1286delinsAG	ENSP00000354778.3:p.Ser429=
NM_014141.5:c.1285_1286delinsAG	NP_054860.1:p.Ser429=
XM_017011950.2:c.1285_1286delinsAG	XP_016867439.1:p.Ser429=
NM_014141.6:c.1285_1286delinsAG MANE Select	NP_054860.1:p.Ser429=