Canonical Allele Identifier: CA2576278120

Gene: CNTNAP1

Linked Data

• gnomAD v4: 17-42688055-C-CTGAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42688056_42688060dup , CM000679.2:g.42688056_42688060dup	GRCh38
NC_000017.10:g.40840074_40840078dup , CM000679.1:g.40840074_40840078dup	GRCh37
NC_000017.9:g.38093600_38093604dup	NCBI36
NG_042091.1:g.10443_10447dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1306+75_1306+79dup MANE Select	ENSP00000264638.3:n.1306+75_1306+79dup
ENST00000264638.8:c.1306+75_1306+79dup	ENSP00000264638.3:n.1306+75_1306+79dup
ENST00000586801.1:n.721+75_721+79dup
ENST00000591662.1:c.1306+75_1306+79dup	ENSP00000466571.1:n.1306+75_1306+79dup
NM_003632.2:c.1306+75_1306+79dup	NP_003623.1:n.1306+75_1306+79dup
XM_005257748.3:c.1078+75_1078+79dup	XP_005257805.1:n.1078+75_1078+79dup
XM_005257748.4:c.1078+75_1078+79dup	XP_005257805.1:n.1078+75_1078+79dup
XM_017025238.1:c.1306+75_1306+79dup	XP_016880727.1:n.1306+75_1306+79dup
XM_024451011.1:c.1306+75_1306+79dup	XP_024306779.1:n.1306+75_1306+79dup
NM_003632.3:c.1306+75_1306+79dup MANE Select	NP_003623.1:n.1306+75_1306+79dup