Canonical Allele Identifier: CA1108410037

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1800278656
• gnomAD v3: 7-147571043-GT-G
• gnomAD v4: 7-147571043-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147571048del , CM000669.2:g.147571048del	GRCh38
NC_000007.13:g.147268140del , CM000669.1:g.147268140del	GRCh37
NC_000007.12:g.146899073del	NCBI36
NG_007092.2:g.1459688del
NG_007092.3:g.1460048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1897+8791del MANE Select	ENSP00000354778.3:n.1897+8791del
ENST00000636870.1:n.1759+8791del
ENST00000637825.1:n.1380+8791del
ENST00000638117.1:n.1800+8791del
ENST00000361727.7:c.1897+8791del	ENSP00000354778.3:n.1897+8791del
NM_014141.5:c.1897+8791del	NP_054860.1:n.1897+8791del
XM_006715919.1:c.385+8791del	XP_006715982.1:n.385+8791del
XM_017011950.2:c.1897+8791del	XP_016867439.1:n.1897+8791del
NM_014141.6:c.1897+8791del MANE Select	NP_054860.1:n.1897+8791del