Canonical Allele Identifier: CA2637974398

Gene: CNTNAP1

Linked Data

• gnomAD v4: 17-42687688-G-GAATTCCCAGCTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687688_42687689insAATTCCCAGCTGA , CM000679.2:g.42687688_42687689insAATTCCCAGCTGA	GRCh38
NC_000017.10:g.40839706_40839707insAATTCCCAGCTGA , CM000679.1:g.40839706_40839707insAATTCCCAGCTGA	GRCh37
NC_000017.9:g.38093232_38093233insAATTCCCAGCTGA	NCBI36
NG_042091.1:g.10075_10076insAATTCCCAGCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1045-32_1045-31insAATTCCCAGCTGA MANE Select	ENSP00000264638.3:n.1045-32_1045-31insAATTCCCAGCTGA
ENST00000264638.8:c.1045-32_1045-31insAATTCCCAGCTGA	ENSP00000264638.3:n.1045-32_1045-31insAATTCCCAGCTGA
ENST00000586801.1:n.428_429insAATTCCCAGCTGA
ENST00000591662.1:c.1045-32_1045-31insAATTCCCAGCTGA	ENSP00000466571.1:n.1045-32_1045-31insAATTCCCAGCTGA
NM_003632.2:c.1045-32_1045-31insAATTCCCAGCTGA	NP_003623.1:n.1045-32_1045-31insAATTCCCAGCTGA
XM_005257748.3:c.817-32_817-31insAATTCCCAGCTGA	XP_005257805.1:n.817-32_817-31insAATTCCCAGCTGA
XM_005257748.4:c.817-32_817-31insAATTCCCAGCTGA	XP_005257805.1:n.817-32_817-31insAATTCCCAGCTGA
XM_017025238.1:c.1045-32_1045-31insAATTCCCAGCTGA	XP_016880727.1:n.1045-32_1045-31insAATTCCCAGCTGA
XM_024451011.1:c.1045-32_1045-31insAATTCCCAGCTGA	XP_024306779.1:n.1045-32_1045-31insAATTCCCAGCTGA
NM_003632.3:c.1045-32_1045-31insAATTCCCAGCTGA MANE Select	NP_003623.1:n.1045-32_1045-31insAATTCCCAGCTGA