Canonical Allele Identifier: CA2260598624

Gene: CNTNAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42688005_42688013delinsCAAGAAGAG , CM000679.2:g.42688005_42688013delinsCAAGAAGAG	GRCh38
NC_000017.10:g.40840023_40840031delinsCAAGAAGAG , CM000679.1:g.40840023_40840031delinsCAAGAAGAG	GRCh37
NC_000017.9:g.38093549_38093557delinsCAAGAAGAG	NCBI36
NG_042091.1:g.10392_10400delinsCAAGAAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1306+24_1306+32delinsCAAGAAGAG MANE Select	ENSP00000264638.3:n.1306+24_1306+32delinsCAAGAAGAG
ENST00000264638.8:c.1306+24_1306+32delinsCAAGAAGAG	ENSP00000264638.3:n.1306+24_1306+32delinsCAAGAAGAG
ENST00000586801.1:n.721+24_721+32delinsCAAGAAGAG
ENST00000591662.1:c.1306+24_1306+32delinsCAAGAAGAG	ENSP00000466571.1:n.1306+24_1306+32delinsCAAGAAGAG
NM_003632.2:c.1306+24_1306+32delinsCAAGAAGAG	NP_003623.1:n.1306+24_1306+32delinsCAAGAAGAG
XM_005257748.3:c.1078+24_1078+32delinsCAAGAAGAG	XP_005257805.1:n.1078+24_1078+32delinsCAAGAAGAG
XM_005257748.4:c.1078+24_1078+32delinsCAAGAAGAG	XP_005257805.1:n.1078+24_1078+32delinsCAAGAAGAG
XM_017025238.1:c.1306+24_1306+32delinsCAAGAAGAG	XP_016880727.1:n.1306+24_1306+32delinsCAAGAAGAG
XM_024451011.1:c.1306+24_1306+32delinsCAAGAAGAG	XP_024306779.1:n.1306+24_1306+32delinsCAAGAAGAG
NM_003632.3:c.1306+24_1306+32delinsCAAGAAGAG MANE Select	NP_003623.1:n.1306+24_1306+32delinsCAAGAAGAG