Canonical Allele Identifier: CA290789045
Gene: CNTNAP1 HGNC NCBI
CCR10 HGNC NCBI

Linked Data

dbSNP Id: rs141298925
gnomAD v2: 17-40834652-C-CAG
gnomAD v3: 17-42682634-C-CAG
gnomAD v4: 17-42682634-C-CAG
MyVariant Identifiers: chr17:g.40834669_40834670insGA (hg19) chr17:g.40834656_40834657insAG (hg19) chr17:g.40834652_40834653insAG (hg19) chr17:g.42682651_42682652insGA (hg38) chr17:g.42682638_42682639insAG (hg38) chr17:g.42682634_42682635insAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42682650_42682651dup , CM000679.2:g.42682650_42682651dup GRCh38
NC_000017.10:g.40834668_40834669dup , CM000679.1:g.40834668_40834669dup GRCh37
NC_000017.9:g.38088194_38088195dup NCBI36
NG_042091.1:g.5037_5038dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.-180_-179dup (CNTNAP1) MANE Select ENSP00000264638.3:n.-180_-179dup
ENST00000264638.8:c.-180_-179dup (CNTNAP1) ENSP00000264638.3:n.-180_-179dup
ENST00000591568.1:c.-643+1180_-643+1181dup (CCR10) ENSP00000467331.1:n.-643+1180_-643+1181dup
ENST00000591765.1:c.-958_-957dup (CCR10) ENSP00000468135.1:n.-958_-957dup
NM_003632.2:c.-180_-179dup (CNTNAP1) NP_003623.1:n.-180_-179dup
XM_017025238.1:c.-180_-179dup (CNTNAP1) XP_016880727.1:n.-180_-179dup
XM_024451011.1:c.-180_-179dup (CNTNAP1) XP_024306779.1:n.-180_-179dup
NM_003632.3:c.-180_-179dup (CNTNAP1) MANE Select NP_003623.1:n.-180_-179dup
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