Canonical Allele Identifier: CA2637974521

Gene: CNTNAP1

Linked Data

• gnomAD v4: 17-42688124-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42688128del , CM000679.2:g.42688128del	GRCh38
NC_000017.10:g.40840146del , CM000679.1:g.40840146del	GRCh37
NC_000017.9:g.38093672del	NCBI36
NG_042091.1:g.10515del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1306+147del MANE Select	ENSP00000264638.3:n.1306+147del
ENST00000264638.8:c.1306+147del	ENSP00000264638.3:n.1306+147del
ENST00000586801.1:n.721+147del
ENST00000591662.1:c.1306+147del	ENSP00000466571.1:n.1306+147del
NM_003632.2:c.1306+147del	NP_003623.1:n.1306+147del
XM_005257748.3:c.1078+147del	XP_005257805.1:n.1078+147del
XM_005257748.4:c.1078+147del	XP_005257805.1:n.1078+147del
XM_017025238.1:c.1306+147del	XP_016880727.1:n.1306+147del
XM_024451011.1:c.1306+147del	XP_024306779.1:n.1306+147del
NM_003632.3:c.1306+147del MANE Select	NP_003623.1:n.1306+147del