Canonical Allele Identifier: CA2637988382
Gene: CNTNAP1 HGNC NCBI
CCR10 HGNC NCBI

Linked Data

gnomAD v4: 17-42682592-GGAAAGGAGAGGATAGAGAGAGAAGAGCGGAGGACCAGGAACCAGAGAGAGAGAGAGAGAAAAGAGAGAGGAGAGACAGAGCGCTTGGGGGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42682603_42682693del , CM000679.2:g.42682603_42682693del GRCh38
NC_000017.10:g.40834621_40834711del , CM000679.1:g.40834621_40834711del GRCh37
NC_000017.9:g.38088147_38088237del NCBI36
NG_042091.1:g.4990_5080del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.-227_-137del (CNTNAP1) MANE Select ENSP00000264638.3:n.-227_-137del
ENST00000591568.1:c.-643+1133_-643+1223del (CCR10) ENSP00000467331.1:n.-643+1133_-643+1223del
ENST00000591765.1:c.-1005_-915del (CCR10) ENSP00000468135.1:n.-1005_-915del
XM_017025238.1:c.-227_-137del (CNTNAP1) XP_016880727.1:n.-227_-137del
XM_024451011.1:c.-227_-137del (CNTNAP1) XP_024306779.1:n.-227_-137del
NM_003632.3:c.-227_-137del (CNTNAP1) MANE Select NP_003623.1:n.-227_-137del
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