Canonical Allele Identifier: CA645574060

Gene: CNTNAP1

Linked Data

• COSMIC: COSM5751129

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687774_42687775dup , CM000679.2:g.42687774_42687775dup	GRCh38
NC_000017.10:g.40839792_40839793dup , CM000679.1:g.40839792_40839793dup	GRCh37
NC_000017.9:g.38093318_38093319dup	NCBI36
NG_042091.1:g.10161_10162dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1099_1100dup MANE Select	ENSP00000264638.3:p.Pro368AlafsTer?
ENST00000264638.8:c.1099_1100dup	ENSP00000264638.3:p.Pro368AlafsTer?
ENST00000586801.1:n.514_515dup
ENST00000591662.1:c.1099_1100dup	ENSP00000466571.1:p.Pro368AlafsTer?
NM_003632.2:c.1099_1100dup	NP_003623.1:p.Pro368AlafsTer?
XM_005257748.3:c.871_872dup	XP_005257805.1:p.Pro292AlafsTer?
XM_005257748.4:c.871_872dup	XP_005257805.1:p.Pro292AlafsTer?
XM_017025238.1:c.1099_1100dup	XP_016880727.1:p.Pro368AlafsTer?
XM_024451011.1:c.1099_1100dup	XP_024306779.1:p.Pro368AlafsTer?
NM_003632.3:c.1099_1100dup MANE Select	NP_003623.1:p.Pro368AlafsTer?