Canonical Allele Identifier: CA626068929
Gene: CNTNAP1 HGNC NCBI
CCR10 HGNC NCBI

Linked Data

dbSNP Id: rs1165004797
gnomAD v2: 17-40834602-AAG-A
gnomAD v3: 17-42682584-AAG-A
gnomAD v4: 17-42682584-AAG-A
MyVariant Identifiers: chr17:g.40834603_40834604del (hg19) chr17:g.42682585_42682586del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42682587_42682588del , CM000679.2:g.42682587_42682588del GRCh38
NC_000017.10:g.40834605_40834606del , CM000679.1:g.40834605_40834606del GRCh37
NC_000017.9:g.38088131_38088132del NCBI36
NG_042091.1:g.4974_4975del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.-243_-242del (CNTNAP1) MANE Select ENSP00000264638.3:n.-243_-242del
ENST00000591568.1:c.-643+1230_-643+1231del (CCR10) ENSP00000467331.1:n.-643+1230_-643+1231del
ENST00000591765.1:c.-908_-907del (CCR10) ENSP00000468135.1:n.-908_-907del
XM_017025238.1:c.-243_-242del (CNTNAP1) XP_016880727.1:n.-243_-242del
XM_024451011.1:c.-243_-242del (CNTNAP1) XP_024306779.1:n.-243_-242del
NM_003632.3:c.-243_-242del (CNTNAP1) MANE Select NP_003623.1:n.-243_-242del
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