Canonical Allele Identifier: CA983843044

Gene: CNTNAP1

Linked Data

• dbSNP Id: rs2053030356
• gnomAD v3: 17-42687302-T-TG
• gnomAD v4: 17-42687302-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687304dup , CM000679.2:g.42687304dup	GRCh38
NC_000017.10:g.40839322dup , CM000679.1:g.40839322dup	GRCh37
NC_000017.9:g.38092848dup	NCBI36
NG_042091.1:g.9691dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1044+258dup MANE Select	ENSP00000264638.3:n.1044+258dup
ENST00000264638.8:c.1044+258dup	ENSP00000264638.3:n.1044+258dup
ENST00000586801.1:n.44dup
ENST00000591662.1:c.1044+258dup	ENSP00000466571.1:n.1044+258dup
NM_003632.2:c.1044+258dup	NP_003623.1:n.1044+258dup
XM_005257748.3:c.816+258dup	XP_005257805.1:n.816+258dup
XM_005257748.4:c.816+258dup	XP_005257805.1:n.816+258dup
XM_017025238.1:c.1044+258dup	XP_016880727.1:n.1044+258dup
XM_024451011.1:c.1044+258dup	XP_024306779.1:n.1044+258dup
NM_003632.3:c.1044+258dup MANE Select	NP_003623.1:n.1044+258dup