Canonical Allele Identifier: CA1750624379

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132471_147132473delinsTCA , CM000669.2:g.147132471_147132473delinsTCA	GRCh38
NC_000007.13:g.146829563_146829565delinsTCA , CM000669.1:g.146829563_146829565delinsTCA	GRCh37
NC_000007.12:g.146460496_146460498delinsTCA	NCBI36
NG_007092.2:g.1021111_1021113delinsTCA
NG_007092.3:g.1021471_1021473delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1310_1312delinsTCA MANE Select	ENSP00000354778.3:p.Ile437=
ENST00000636561.1:n.1213_1215delinsTCA
ENST00000636870.1:n.1172_1174delinsTCA
ENST00000637150.1:n.1239_1241delinsTCA
ENST00000637694.1:n.1213_1215delinsTCA
ENST00000637825.1:n.793_795delinsTCA
ENST00000638117.1:n.1213_1215delinsTCA
ENST00000361727.7:c.1310_1312delinsTCA	ENSP00000354778.3:p.Ile437=
NM_014141.5:c.1310_1312delinsTCA	NP_054860.1:p.Ile437=
XM_017011950.2:c.1310_1312delinsTCA	XP_016867439.1:p.Ile437=
NM_014141.6:c.1310_1312delinsTCA MANE Select	NP_054860.1:p.Ile437=