Linked Data
dbSNP Id:
rs5030341
gnomAD v2:
19-10383272-ACT-A
gnomAD v3:
19-10272596-ACT-A
gnomAD v4:
19-10272596-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10272599_10272600del , CM000681.2:g.10272599_10272600del | GRCh38 |
| NC_000019.9:g.10383275_10383276del , CM000681.1:g.10383275_10383276del | GRCh37 |
| NC_000019.8:g.10244275_10244276del | NCBI36 |
| NG_012083.1:g.6759_6760del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264832.8:c.67+1373_67+1374del (ICAM1) MANE Select | ENSP00000264832.2:n.67+1373_67+1374del | |
| ENST00000264832.7:c.67+1373_67+1374del (ICAM1) | ENSP00000264832.2:n.67+1373_67+1374del | |
| ENST00000423829.2:c.67+1373_67+1374del (ICAM1) | ENSP00000413124.2:n.67+1373_67+1374del | |
| ENST00000588645.1:c.67+1373_67+1374del (ICAM1) | ENSP00000465680.1:n.67+1373_67+1374del | |
| NM_000201.2:c.67+1373_67+1374del (ICAM1) | NP_000192.2:n.67+1373_67+1374del | |
| XR_936313.1:n.155-5804_155-5803del (LIMASI) | ||
| XR_936314.1:n.155-5804_155-5803del (LIMASI) | ||
| NM_000201.3:c.67+1373_67+1374del (ICAM1) MANE Select | NP_000192.2:n.67+1373_67+1374del |