Canonical Allele Identifier: CA626068927
Gene: CNTNAP1 HGNC NCBI
CCR10 HGNC NCBI

Linked Data

dbSNP Id: rs1181103492
gnomAD v2: 17-40834584-AGGGGGGAG-A
gnomAD v3: 17-42682566-AGGGGGGAG-A
gnomAD v4: 17-42682566-AGGGGGGAG-A
MyVariant Identifiers: chr17:g.40834585_40834592del (hg19) chr17:g.42682567_42682574del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42682568_42682575del , CM000679.2:g.42682568_42682575del GRCh38
NC_000017.10:g.40834586_40834593del , CM000679.1:g.40834586_40834593del GRCh37
NC_000017.9:g.38088112_38088119del NCBI36
NG_042091.1:g.4955_4962del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.-262_-255del (CNTNAP1) MANE Select ENSP00000264638.3:n.-262_-255del
ENST00000591568.1:c.-643+1242_-643+1249del (CCR10) ENSP00000467331.1:n.-643+1242_-643+1249del
ENST00000591765.1:c.-896_-889del (CCR10) ENSP00000468135.1:n.-896_-889del
XM_017025238.1:c.-262_-255del (CNTNAP1) XP_016880727.1:n.-262_-255del
XM_024451011.1:c.-262_-255del (CNTNAP1) XP_024306779.1:n.-262_-255del
NM_003632.3:c.-262_-255del (CNTNAP1) MANE Select NP_003623.1:n.-262_-255del
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