Canonical Allele Identifier: CA2637974124

Gene: CNTNAP1

Linked Data

• gnomAD v4: 17-42687390-C-CAGAGTCGGAGAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687390_42687391insAGAGTCGGAGAGG , CM000679.2:g.42687390_42687391insAGAGTCGGAGAGG	GRCh38
NC_000017.10:g.40839408_40839409insAGAGTCGGAGAGG , CM000679.1:g.40839408_40839409insAGAGTCGGAGAGG	GRCh37
NC_000017.9:g.38092934_38092935insAGAGTCGGAGAGG	NCBI36
NG_042091.1:g.9777_9778insAGAGTCGGAGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1045-330_1045-329insAGAGTCGGAGAGG MANE Select	ENSP00000264638.3:n.1045-330_1045-329insAGAGTCGGAGAGG
ENST00000264638.8:c.1045-330_1045-329insAGAGTCGGAGAGG	ENSP00000264638.3:n.1045-330_1045-329insAGAGTCGGAGAGG
ENST00000586801.1:n.130_131insAGAGTCGGAGAGG
ENST00000591662.1:c.1045-330_1045-329insAGAGTCGGAGAGG	ENSP00000466571.1:n.1045-330_1045-329insAGAGTCGGAGAGG
NM_003632.2:c.1045-330_1045-329insAGAGTCGGAGAGG	NP_003623.1:n.1045-330_1045-329insAGAGTCGGAGAGG
XM_005257748.3:c.817-330_817-329insAGAGTCGGAGAGG	XP_005257805.1:n.817-330_817-329insAGAGTCGGAGAGG
XM_005257748.4:c.817-330_817-329insAGAGTCGGAGAGG	XP_005257805.1:n.817-330_817-329insAGAGTCGGAGAGG
XM_017025238.1:c.1045-330_1045-329insAGAGTCGGAGAGG	XP_016880727.1:n.1045-330_1045-329insAGAGTCGGAGAGG
XM_024451011.1:c.1045-330_1045-329insAGAGTCGGAGAGG	XP_024306779.1:n.1045-330_1045-329insAGAGTCGGAGAGG
NM_003632.3:c.1045-330_1045-329insAGAGTCGGAGAGG MANE Select	NP_003623.1:n.1045-330_1045-329insAGAGTCGGAGAGG