Canonical Allele Identifier: CA2637974411

Gene: CNTNAP1

Linked Data

• gnomAD v4: 17-42687809-ACGCCGTGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687814_42687822del , CM000679.2:g.42687814_42687822del	GRCh38
NC_000017.10:g.40839832_40839840del , CM000679.1:g.40839832_40839840del	GRCh37
NC_000017.9:g.38093358_38093366del	NCBI36
NG_042091.1:g.10201_10209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1139_1147del MANE Select	ENSP00000264638.3:p.Arg380_Arg382del
ENST00000264638.8:c.1139_1147del	ENSP00000264638.3:p.Arg380_Arg382del
ENST00000586801.1:n.554_562del
ENST00000591662.1:c.1139_1147del	ENSP00000466571.1:p.Arg380_Arg382del
NM_003632.2:c.1139_1147del	NP_003623.1:p.Arg380_Arg382del
XM_005257748.3:c.911_919del	XP_005257805.1:p.Arg304_Arg306del
XM_005257748.4:c.911_919del	XP_005257805.1:p.Arg304_Arg306del
XM_017025238.1:c.1139_1147del	XP_016880727.1:p.Arg380_Arg382del
XM_024451011.1:c.1139_1147del	XP_024306779.1:p.Arg380_Arg382del
NM_003632.3:c.1139_1147del MANE Select	NP_003623.1:p.Arg380_Arg382del