Canonical Allele Identifier: CA168690885
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 675891
ClinVar RCV Id: RCV000835275
dbSNP Id: rs148733811
gnomAD v2: 7-146829223-GC-G
gnomAD v3: 7-147132131-GC-G
gnomAD v4: 7-147132131-GC-G
MyVariant Identifiers: chr7:g.146829224del (hg19) chr7:g.147132132del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132132del , CM000669.2:g.147132132del GRCh38
NC_000007.13:g.146829224del , CM000669.1:g.146829224del GRCh37
NC_000007.12:g.146460157del NCBI36
NG_007092.2:g.1020772del
NG_007092.3:g.1021132del

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1084-113del MANE Select ENSP00000354778.3:n.1084-113del
ENST00000636561.1:n.987-113del
ENST00000636870.1:n.946-113del
ENST00000637150.1:n.1013-113del
ENST00000637694.1:n.987-113del
ENST00000637825.1:n.567-113del
ENST00000638117.1:n.987-113del
ENST00000361727.7:c.1084-113del ENSP00000354778.3:n.1084-113del
NM_014141.5:c.1084-113del NP_054860.1:n.1084-113del
XM_017011950.2:c.1084-113del XP_016867439.1:n.1084-113del
NM_014141.6:c.1084-113del MANE Select NP_054860.1:n.1084-113del
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