Canonical Allele Identifier: CA2637974514

Gene: CNTNAP1

Linked Data

• gnomAD v4: 17-42688119-A-ACCCTGGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42688120_42688121insCCTGGGGCC , CM000679.2:g.42688120_42688121insCCTGGGGCC	GRCh38
NC_000017.10:g.40840138_40840139insCCTGGGGCC , CM000679.1:g.40840138_40840139insCCTGGGGCC	GRCh37
NC_000017.9:g.38093664_38093665insCCTGGGGCC	NCBI36
NG_042091.1:g.10507_10508insCCTGGGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1306+139_1306+140insCCTGGGGCC MANE Select	ENSP00000264638.3:n.1306+139_1306+140insCCTGGGGCC
ENST00000264638.8:c.1306+139_1306+140insCCTGGGGCC	ENSP00000264638.3:n.1306+139_1306+140insCCTGGGGCC
ENST00000586801.1:n.721+139_721+140insCCTGGGGCC
ENST00000591662.1:c.1306+139_1306+140insCCTGGGGCC	ENSP00000466571.1:n.1306+139_1306+140insCCTGGGGCC
NM_003632.2:c.1306+139_1306+140insCCTGGGGCC	NP_003623.1:n.1306+139_1306+140insCCTGGGGCC
XM_005257748.3:c.1078+139_1078+140insCCTGGGGCC	XP_005257805.1:n.1078+139_1078+140insCCTGGGGCC
XM_005257748.4:c.1078+139_1078+140insCCTGGGGCC	XP_005257805.1:n.1078+139_1078+140insCCTGGGGCC
XM_017025238.1:c.1306+139_1306+140insCCTGGGGCC	XP_016880727.1:n.1306+139_1306+140insCCTGGGGCC
XM_024451011.1:c.1306+139_1306+140insCCTGGGGCC	XP_024306779.1:n.1306+139_1306+140insCCTGGGGCC
NM_003632.3:c.1306+139_1306+140insCCTGGGGCC MANE Select	NP_003623.1:n.1306+139_1306+140insCCTGGGGCC