Canonical Allele Identifier: CA2637974414

Gene: CNTNAP1

Linked Data

• gnomAD v4: 17-42687927-CAGGTCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687929_42687934del , CM000679.2:g.42687929_42687934del	GRCh38
NC_000017.10:g.40839947_40839952del , CM000679.1:g.40839947_40839952del	GRCh37
NC_000017.9:g.38093473_38093478del	NCBI36
NG_042091.1:g.10316_10321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1254_1259del MANE Select	ENSP00000264638.3:p.Gln418_Asn420delinsHis
ENST00000264638.8:c.1254_1259del	ENSP00000264638.3:p.Gln418_Asn420delinsHis
ENST00000586801.1:n.669_674del
ENST00000591662.1:c.1254_1259del	ENSP00000466571.1:p.Gln418_Asn420delinsHis
NM_003632.2:c.1254_1259del	NP_003623.1:p.Gln418_Asn420delinsHis
XM_005257748.3:c.1026_1031del	XP_005257805.1:p.Gln342_Asn344delinsHis
XM_005257748.4:c.1026_1031del	XP_005257805.1:p.Gln342_Asn344delinsHis
XM_017025238.1:c.1254_1259del	XP_016880727.1:p.Gln418_Asn420delinsHis
XM_024451011.1:c.1254_1259del	XP_024306779.1:p.Gln418_Asn420delinsHis
NM_003632.3:c.1254_1259del MANE Select	NP_003623.1:p.Gln418_Asn420delinsHis