Linked Data
ClinVar Variation Id:
43556
ClinVar RCV Id:
RCV000036492
dbSNP Id:
rs111033400
MyVariant Identifiers:
chr7:g.107312675_107312676delinsA (hg19)
chr7:g.107672230_107672231delinsA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107672230_107672231delinsA , CM000669.2:g.107672230_107672231delinsA | GRCh38 |
| NC_000007.13:g.107312675_107312676delinsA , CM000669.1:g.107312675_107312676delinsA | GRCh37 |
| NC_000007.12:g.107099911_107099912delinsA | NCBI36 |
| NG_008489.1:g.16596_16597delinsA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.397_398delinsA MANE Select | ENSP00000494017.1:p.Ser133LysfsTer12 | |
| ENST00000265715.7:c.397_398delinsA | ENSP00000265715.3:p.Ser133LysfsTer12 | |
| NM_000441.1:c.397_398delinsA | NP_000432.1:p.Ser133LysfsTer12 | |
| XM_005250425.1:c.397_398delinsA | XP_005250482.1:p.Ser133LysfsTer12 | |
| XM_006716025.2:c.397_398delinsA | XP_006716088.1:p.Ser133LysfsTer12 | |
| XM_005250425.2:c.397_398delinsA | XP_005250482.1:p.Ser133LysfsTer12 | |
| XM_006716025.3:c.397_398delinsA | XP_006716088.1:p.Ser133LysfsTer12 | |
| XM_017012318.1:c.397_398delinsA | XP_016867807.1:p.Ser133LysfsTer12 | |
| NM_000441.2:c.397_398delinsA MANE Select | NP_000432.1:p.Ser133LysfsTer12 |