Linked Data
dbSNP Id:
rs1278736001
gnomAD v2:
19-10383222-C-CTTTCT
gnomAD v3:
19-10272546-C-CTTTCT
gnomAD v4:
19-10272546-C-CTTTCT
MyVariant Identifiers:
chr19:g.10383227_10383228insTTTCT (hg19)
chr19:g.10272551_10272552insTTTCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10272560_10272564dup , CM000681.2:g.10272560_10272564dup | GRCh38 |
| NC_000019.9:g.10383236_10383240dup , CM000681.1:g.10383236_10383240dup | GRCh37 |
| NC_000019.8:g.10244236_10244240dup | NCBI36 |
| NG_012083.1:g.6720_6724dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264832.8:c.67+1334_67+1338dup (ICAM1) MANE Select | ENSP00000264832.2:n.67+1334_67+1338dup | |
| ENST00000264832.7:c.67+1334_67+1338dup (ICAM1) | ENSP00000264832.2:n.67+1334_67+1338dup | |
| ENST00000423829.2:c.67+1334_67+1338dup (ICAM1) | ENSP00000413124.2:n.67+1334_67+1338dup | |
| ENST00000588645.1:c.67+1334_67+1338dup (ICAM1) | ENSP00000465680.1:n.67+1334_67+1338dup | |
| NM_000201.2:c.67+1334_67+1338dup (ICAM1) | NP_000192.2:n.67+1334_67+1338dup | |
| XR_936313.1:n.155-5757_155-5753dup (LIMASI) | ||
| XR_936314.1:n.155-5757_155-5753dup (LIMASI) | ||
| NM_000201.3:c.67+1334_67+1338dup (ICAM1) MANE Select | NP_000192.2:n.67+1334_67+1338dup |