Canonical Allele Identifier: CA2260598288

Gene: CNTNAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687273_42687276delinsTGAA , CM000679.2:g.42687273_42687276delinsTGAA	GRCh38
NC_000017.10:g.40839291_40839294delinsTGAA , CM000679.1:g.40839291_40839294delinsTGAA	GRCh37
NC_000017.9:g.38092817_38092820delinsTGAA	NCBI36
NG_042091.1:g.9660_9663delinsTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1044+227_1044+230delinsTGAA MANE Select	ENSP00000264638.3:n.1044+227_1044+230delinsTGAA
ENST00000264638.8:c.1044+227_1044+230delinsTGAA	ENSP00000264638.3:n.1044+227_1044+230delinsTGAA
ENST00000586801.1:n.13_16delinsTGAA
ENST00000591662.1:c.1044+227_1044+230delinsTGAA	ENSP00000466571.1:n.1044+227_1044+230delinsTGAA
NM_003632.2:c.1044+227_1044+230delinsTGAA	NP_003623.1:n.1044+227_1044+230delinsTGAA
XM_005257748.3:c.816+227_816+230delinsTGAA	XP_005257805.1:n.816+227_816+230delinsTGAA
XM_005257748.4:c.816+227_816+230delinsTGAA	XP_005257805.1:n.816+227_816+230delinsTGAA
XM_017025238.1:c.1044+227_1044+230delinsTGAA	XP_016880727.1:n.1044+227_1044+230delinsTGAA
XM_024451011.1:c.1044+227_1044+230delinsTGAA	XP_024306779.1:n.1044+227_1044+230delinsTGAA
NM_003632.3:c.1044+227_1044+230delinsTGAA MANE Select	NP_003623.1:n.1044+227_1044+230delinsTGAA