Canonical Allele Identifier: CA1750993602

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147904760_147904761delinsCT , CM000669.2:g.147904760_147904761delinsCT	GRCh38
NC_000007.13:g.147601852_147601853delinsCT , CM000669.1:g.147601852_147601853delinsCT	GRCh37
NC_000007.12:g.147232785_147232786delinsCT	NCBI36
NG_007092.2:g.1793400_1793401delinsCT
NG_007092.3:g.1793760_1793761delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2255+1039_2255+1040delinsCT MANE Select	ENSP00000354778.3:n.2255+1039_2255+1040delinsCT
ENST00000636870.1:n.2117+1039_2117+1040delinsCT
ENST00000637825.1:n.1738+1039_1738+1040delinsCT
ENST00000361727.7:c.2255+1039_2255+1040delinsCT	ENSP00000354778.3:n.2255+1039_2255+1040delinsCT
ENST00000455301.2:n.190+1039_190+1040delinsCT
ENST00000627772.2:n.428+1039_428+1040delinsCT
NM_014141.5:c.2255+1039_2255+1040delinsCT	NP_054860.1:n.2255+1039_2255+1040delinsCT
XM_006715919.1:c.743+1039_743+1040delinsCT	XP_006715982.1:n.743+1039_743+1040delinsCT
NM_014141.6:c.2255+1039_2255+1040delinsCT MANE Select	NP_054860.1:n.2255+1039_2255+1040delinsCT