Linked Data
dbSNP Id:
rs141298925
gnomAD v2:
17-40834652-CAGAG-C
gnomAD v3:
17-42682634-CAGAG-C
gnomAD v4:
17-42682634-CAGAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42682648_42682651del , CM000679.2:g.42682648_42682651del | GRCh38 |
| NC_000017.10:g.40834666_40834669del , CM000679.1:g.40834666_40834669del | GRCh37 |
| NC_000017.9:g.38088192_38088195del | NCBI36 |
| NG_042091.1:g.5035_5038del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264638.9:c.-182_-179del (CNTNAP1) MANE Select | ENSP00000264638.3:n.-182_-179del | |
| ENST00000264638.8:c.-182_-179del (CNTNAP1) | ENSP00000264638.3:n.-182_-179del | |
| ENST00000591568.1:c.-643+1178_-643+1181del (CCR10) | ENSP00000467331.1:n.-643+1178_-643+1181del | |
| ENST00000591765.1:c.-960_-957del (CCR10) | ENSP00000468135.1:n.-960_-957del | |
| NM_003632.2:c.-182_-179del (CNTNAP1) | NP_003623.1:n.-182_-179del | |
| XM_017025238.1:c.-182_-179del (CNTNAP1) | XP_016880727.1:n.-182_-179del | |
| XM_024451011.1:c.-182_-179del (CNTNAP1) | XP_024306779.1:n.-182_-179del | |
| NM_003632.3:c.-182_-179del (CNTNAP1) MANE Select | NP_003623.1:n.-182_-179del |