Canonical Allele Identifier: CA2260598289

Gene: CNTNAP1

Linked Data

• dbSNP Id: rs2053030003
• gnomAD v4: 17-42687273-TGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687277_42687279del , CM000679.2:g.42687277_42687279del	GRCh38
NC_000017.10:g.40839295_40839297del , CM000679.1:g.40839295_40839297del	GRCh37
NC_000017.9:g.38092821_38092823del	NCBI36
NG_042091.1:g.9664_9666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1044+231_1044+233del MANE Select	ENSP00000264638.3:n.1044+231_1044+233del
ENST00000264638.8:c.1044+231_1044+233del	ENSP00000264638.3:n.1044+231_1044+233del
ENST00000586801.1:n.17_19del
ENST00000591662.1:c.1044+231_1044+233del	ENSP00000466571.1:n.1044+231_1044+233del
NM_003632.2:c.1044+231_1044+233del	NP_003623.1:n.1044+231_1044+233del
XM_005257748.3:c.816+231_816+233del	XP_005257805.1:n.816+231_816+233del
XM_005257748.4:c.816+231_816+233del	XP_005257805.1:n.816+231_816+233del
XM_017025238.1:c.1044+231_1044+233del	XP_016880727.1:n.1044+231_1044+233del
XM_024451011.1:c.1044+231_1044+233del	XP_024306779.1:n.1044+231_1044+233del
NM_003632.3:c.1044+231_1044+233del MANE Select	NP_003623.1:n.1044+231_1044+233del