Canonical Allele Identifier: CA168646683
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs550596893
gnomAD v2: 7-146489342-C-CA
gnomAD v3: 7-146792250-C-CA
gnomAD v4: 7-146792250-C-CA
COSMIC: COSN22862945
MyVariant Identifiers: chr7:g.146489343_146489344insA (hg19) chr7:g.146489342_146489343insA (hg19) chr7:g.146792251_146792252insA (hg38) chr7:g.146792250_146792251insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792259dup , CM000669.2:g.146792259dup GRCh38
NC_000007.13:g.146489351dup , CM000669.1:g.146489351dup GRCh37
NC_000007.12:g.146120284dup NCBI36
NG_007092.2:g.680899dup
NG_007092.3:g.681259dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+17878dup MANE Select ENSP00000354778.3:n.208+17878dup
ENST00000636561.1:n.111+17878dup
ENST00000637150.1:n.137+17878dup
ENST00000637694.1:n.111+17878dup
ENST00000638117.1:n.111+17878dup
ENST00000361727.7:c.208+17878dup ENSP00000354778.3:n.208+17878dup
ENST00000625365.2:c.208+17878dup ENSP00000485955.1:n.208+17878dup
NM_014141.5:c.208+17878dup NP_054860.1:n.208+17878dup
XM_017011950.2:c.208+17878dup XP_016867439.1:n.208+17878dup
NM_014141.6:c.208+17878dup MANE Select NP_054860.1:n.208+17878dup
Search 100 bp 5'
Search 100 bp 3'