Canonical Allele Identifier: CA578853039

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1304139575
• gnomAD v2: 7-147268356-TC-T
• gnomAD v3: 7-147571264-TC-T
• gnomAD v4: 7-147571264-TC-T
• MyVariant Identifiers: chr7:g.147268357del (hg19) ; chr7:g.147571265del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147571270del , CM000669.2:g.147571270del	GRCh38
NC_000007.13:g.147268362del , CM000669.1:g.147268362del	GRCh37
NC_000007.12:g.146899295del	NCBI36
NG_007092.2:g.1459910del
NG_007092.3:g.1460270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1897+9013del MANE Select	ENSP00000354778.3:n.1897+9013del
ENST00000636870.1:n.1759+9013del
ENST00000637825.1:n.1380+9013del
ENST00000638117.1:n.1800+9013del
ENST00000361727.7:c.1897+9013del	ENSP00000354778.3:n.1897+9013del
NM_014141.5:c.1897+9013del	NP_054860.1:n.1897+9013del
XM_006715919.1:c.385+9013del	XP_006715982.1:n.385+9013del
XM_017011950.2:c.1897+9013del	XP_016867439.1:n.1897+9013del
NM_014141.6:c.1897+9013del MANE Select	NP_054860.1:n.1897+9013del