Canonical Allele Identifier: CA2260598294

Gene: CNTNAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687278_42687282delinsAAAGT , CM000679.2:g.42687278_42687282delinsAAAGT	GRCh38
NC_000017.10:g.40839296_40839300delinsAAAGT , CM000679.1:g.40839296_40839300delinsAAAGT	GRCh37
NC_000017.9:g.38092822_38092826delinsAAAGT	NCBI36
NG_042091.1:g.9665_9669delinsAAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1044+232_1044+236delinsAAAGT MANE Select	ENSP00000264638.3:n.1044+232_1044+236delinsAAAGT
ENST00000264638.8:c.1044+232_1044+236delinsAAAGT	ENSP00000264638.3:n.1044+232_1044+236delinsAAAGT
ENST00000586801.1:n.18_22delinsAAAGT
ENST00000591662.1:c.1044+232_1044+236delinsAAAGT	ENSP00000466571.1:n.1044+232_1044+236delinsAAAGT
NM_003632.2:c.1044+232_1044+236delinsAAAGT	NP_003623.1:n.1044+232_1044+236delinsAAAGT
XM_005257748.3:c.816+232_816+236delinsAAAGT	XP_005257805.1:n.816+232_816+236delinsAAAGT
XM_005257748.4:c.816+232_816+236delinsAAAGT	XP_005257805.1:n.816+232_816+236delinsAAAGT
XM_017025238.1:c.1044+232_1044+236delinsAAAGT	XP_016880727.1:n.1044+232_1044+236delinsAAAGT
XM_024451011.1:c.1044+232_1044+236delinsAAAGT	XP_024306779.1:n.1044+232_1044+236delinsAAAGT
NM_003632.3:c.1044+232_1044+236delinsAAAGT MANE Select	NP_003623.1:n.1044+232_1044+236delinsAAAGT