Linked Data
ClinVar Variation Id:
5607
ClinVar RCV Id:
RCV000005957
dbSNP Id:
rs606231165
PubMed:
PMID:11231901
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34514482_34514493del , CM000671.2:g.34514482_34514493del | GRCh38 |
| NC_000009.11:g.34514480_34514491del , CM000671.1:g.34514480_34514491del | GRCh37 |
| NC_000009.10:g.34504480_34504491del | NCBI36 |
| NG_008127.1:g.60670_60681del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242317.9:c.1658_1669del MANE Select | ENSP00000242317.4:p.Thr553_Phe556del | |
| ENST00000242317.8:c.1658_1669del | ENSP00000242317.4:p.Thr553_Phe556del | |
| ENST00000442556.1:c.169_180del | ||
| ENST00000470169.5:c.507-158_507-147del | ||
| ENST00000485580.1:n.137_148del | ||
| ENST00000614641.4:c.1670_1681del | ENSP00000480538.1:p.Thr557_Phe560del | |
| NM_001281428.1:c.1670_1681del | NP_001268357.1:p.Thr557_Phe560del | |
| NM_012144.3:c.1658_1669del | NP_036276.1:p.Thr553_Phe556del | |
| XM_006716758.2:c.1127_1138del | XP_006716821.1:p.Thr376_Phe379del | |
| XM_011517846.1:c.1670_1681del | XP_011516148.1:p.Thr557_Phe560del | |
| XM_011517847.1:c.1670_1681del | XP_011516149.1:p.Thr557_Phe560del | |
| XM_011517848.1:c.1412_1423del | XP_011516150.1:p.Thr471_Phe474del | |
| XM_011517849.1:c.1582-22_1582-11del | XP_011516151.1:n.1582-22_1582-11del | |
| XR_929232.1:n.1836-22_1836-11del | ||
| XR_929233.1:n.1836-22_1836-11del | ||
| XR_929235.1:n.1578-22_1578-11del | ||
| XM_006716758.3:c.1127_1138del | XP_006716821.1:p.Thr376_Phe379del | |
| XM_011517846.2:c.1670_1681del | XP_011516148.1:p.Thr557_Phe560del | |
| XM_011517847.3:c.1670_1681del | XP_011516149.1:p.Thr557_Phe560del | |
| XM_011517848.2:c.1412_1423del | XP_011516150.1:p.Thr471_Phe474del | |
| XM_011517849.2:c.1582-22_1582-11del | XP_011516151.1:n.1582-22_1582-11del | |
| XM_017014625.2:c.1400_1411del | XP_016870114.1:p.Thr467_Phe470del | |
| XR_002956774.1:n.1783-22_1783-11del | ||
| XR_929232.2:n.1783-22_1783-11del | ||
| XR_929233.2:n.1783-22_1783-11del | ||
| NM_012144.4:c.1658_1669del MANE Select | NP_036276.1:p.Thr553_Phe556del | |
| NM_001281428.2:c.1670_1681del | NP_001268357.1:p.Thr557_Phe560del |