Linked Data
dbSNP Id:
rs1291330803
gnomAD v3:
17-42682824-CCCTGCAT-C
gnomAD v4:
17-42682824-CCCTGCAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42682825_42682831del , CM000679.2:g.42682825_42682831del | GRCh38 |
| NC_000017.10:g.40834843_40834849del , CM000679.1:g.40834843_40834849del | GRCh37 |
| NC_000017.9:g.38088369_38088375del | NCBI36 |
| NG_042091.1:g.5212_5218del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264638.9:c.-5_2del (CNTNAP1) | ||
| ENST00000264638.8:c.-5_2del (CNTNAP1) | ||
| ENST00000591568.1:c.-643+985_-643+991del (CCR10) | ENSP00000467331.1:n.-643+985_-643+991del | |
| ENST00000591662.1:c.-5_2del (CNTNAP1) | ||
| ENST00000591765.1:c.-1153_-1147del (CCR10) | ENSP00000468135.1:n.-1153_-1147del | |
| NM_003632.2:c.-5_2del (CNTNAP1) | ||
| XM_005257748.4:c.-1025_-1019del (CNTNAP1) | XP_005257805.1:n.-1025_-1019del | |
| XM_017025238.1:c.-5_2del (CNTNAP1) | ||
| XM_024451011.1:c.-5_2del (CNTNAP1) | ||
| NM_003632.3:c.-5_2del (CNTNAP1) |