Linked Data
ClinVar Variation Id:
557613
ClinVar RCV Id:
RCV000673779
dbSNP Id:
rs1554923852
gnomAD v4:
11-2169758-CA-C
MyVariant Identifiers:
chr11:g.2169759del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2169759del , CM000673.2:g.2169759del | GRCh38 |
| NC_000011.9:g.2190989del , CM000673.1:g.2190989del | GRCh37 |
| NC_000011.8:g.2147565del | NCBI36 |
| NG_008128.1:g.7047del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352909.8:c.203del MANE Select | ENSP00000325951.4:p.Leu68ArgfsTer15 | |
| ENST00000324155.8:c.91-64del | ENSP00000325831.3:n.91-64del | |
| ENST00000333684.9:c.203del | ENSP00000328814.6:p.Leu68ArgfsTer15 | |
| ENST00000352909.7:c.203del | ENSP00000325951.3:p.Leu68ArgfsTer15 | |
| ENST00000381168.7:c.103-64del | ENSP00000370560.3:n.103-64del | |
| ENST00000381175.5:c.284del | ENSP00000370567.1:p.Leu95ArgfsTer15 | |
| ENST00000381178.5:c.296del | ENSP00000370571.1:p.Leu99ArgfsTer15 | |
| NM_000360.3:c.203del | NP_000351.2:p.Leu68ArgfsTer15 | |
| NM_199292.2:c.296del | NP_954986.2:p.Leu99ArgfsTer15 | |
| NM_199293.2:c.284del | NP_954987.2:p.Leu95ArgfsTer15 | |
| XM_011520335.1:c.215del | XP_011518637.1:p.Leu72ArgfsTer15 | |
| XM_011520335.2:c.215del | XP_011518637.1:p.Leu72ArgfsTer15 | |
| NM_000360.4:c.203del MANE Select | NP_000351.2:p.Leu68ArgfsTer15 | |
| NM_199292.3:c.296del | NP_954986.2:p.Leu99ArgfsTer15 | |
| NM_199293.3:c.284del | NP_954987.2:p.Leu95ArgfsTer15 |