Canonical Allele Identifier: CA2260598652

Gene: CNTNAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42688055_42688057delinsCTG , CM000679.2:g.42688055_42688057delinsCTG	GRCh38
NC_000017.10:g.40840073_40840075delinsCTG , CM000679.1:g.40840073_40840075delinsCTG	GRCh37
NC_000017.9:g.38093599_38093601delinsCTG	NCBI36
NG_042091.1:g.10442_10444delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1306+74_1306+76delinsCTG MANE Select	ENSP00000264638.3:n.1306+74_1306+76delinsCTG
ENST00000264638.8:c.1306+74_1306+76delinsCTG	ENSP00000264638.3:n.1306+74_1306+76delinsCTG
ENST00000586801.1:n.721+74_721+76delinsCTG
ENST00000591662.1:c.1306+74_1306+76delinsCTG	ENSP00000466571.1:n.1306+74_1306+76delinsCTG
NM_003632.2:c.1306+74_1306+76delinsCTG	NP_003623.1:n.1306+74_1306+76delinsCTG
XM_005257748.3:c.1078+74_1078+76delinsCTG	XP_005257805.1:n.1078+74_1078+76delinsCTG
XM_005257748.4:c.1078+74_1078+76delinsCTG	XP_005257805.1:n.1078+74_1078+76delinsCTG
XM_017025238.1:c.1306+74_1306+76delinsCTG	XP_016880727.1:n.1306+74_1306+76delinsCTG
XM_024451011.1:c.1306+74_1306+76delinsCTG	XP_024306779.1:n.1306+74_1306+76delinsCTG
NM_003632.3:c.1306+74_1306+76delinsCTG MANE Select	NP_003623.1:n.1306+74_1306+76delinsCTG