Canonical Allele Identifier: CA772116877

Gene: CNTNAP1

Linked Data

• dbSNP Id: rs1398323015
• gnomAD v4: 17-42687278-AAAGT-A
• MyVariant Identifiers: chr17:g.40839297_40839300del (hg19) ; chr17:g.42687279_42687282del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687282_42687285del , CM000679.2:g.42687282_42687285del	GRCh38
NC_000017.10:g.40839300_40839303del , CM000679.1:g.40839300_40839303del	GRCh37
NC_000017.9:g.38092826_38092829del	NCBI36
NG_042091.1:g.9669_9672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1044+236_1044+239del MANE Select	ENSP00000264638.3:n.1044+236_1044+239del
ENST00000264638.8:c.1044+236_1044+239del	ENSP00000264638.3:n.1044+236_1044+239del
ENST00000586801.1:n.22_25del
ENST00000591662.1:c.1044+236_1044+239del	ENSP00000466571.1:n.1044+236_1044+239del
NM_003632.2:c.1044+236_1044+239del	NP_003623.1:n.1044+236_1044+239del
XM_005257748.3:c.816+236_816+239del	XP_005257805.1:n.816+236_816+239del
XM_005257748.4:c.816+236_816+239del	XP_005257805.1:n.816+236_816+239del
XM_017025238.1:c.1044+236_1044+239del	XP_016880727.1:n.1044+236_1044+239del
XM_024451011.1:c.1044+236_1044+239del	XP_024306779.1:n.1044+236_1044+239del
NM_003632.3:c.1044+236_1044+239del MANE Select	NP_003623.1:n.1044+236_1044+239del