Canonical Allele Identifier: CA2637974413

Gene: CNTNAP1

Linked Data

• gnomAD v4: 17-42687883-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687888del , CM000679.2:g.42687888del	GRCh38
NC_000017.10:g.40839906del , CM000679.1:g.40839906del	GRCh37
NC_000017.9:g.38093432del	NCBI36
NG_042091.1:g.10275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1213del MANE Select	ENSP00000264638.3:p.Asp405ThrfsTer8
ENST00000264638.8:c.1213del	ENSP00000264638.3:p.Asp405ThrfsTer8
ENST00000586801.1:n.628del
ENST00000591662.1:c.1213del	ENSP00000466571.1:p.Asp405ThrfsTer8
NM_003632.2:c.1213del	NP_003623.1:p.Asp405ThrfsTer8
XM_005257748.3:c.985del	XP_005257805.1:p.Asp329ThrfsTer8
XM_005257748.4:c.985del	XP_005257805.1:p.Asp329ThrfsTer8
XM_017025238.1:c.1213del	XP_016880727.1:p.Asp405ThrfsTer8
XM_024451011.1:c.1213del	XP_024306779.1:p.Asp405ThrfsTer8
NM_003632.3:c.1213del MANE Select	NP_003623.1:p.Asp405ThrfsTer8