Linked Data
ClinVar Variation Id:
2144
ClinVar RCV Id:
RCV000002226
dbSNP Id:
rs121918266
PubMed:
PMID:15146185
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37001030_37001032del , CM000667.2:g.37001030_37001032del | GRCh38 |
| NC_000005.9:g.37001132_37001134del , CM000667.1:g.37001132_37001134del | GRCh37 |
| NC_000005.8:g.37036889_37036891del | NCBI36 |
| NG_006987.1:g.129148_129150del | |
| NG_006987.2:g.129148_129150del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282516.13:c.3616_3618del MANE Select | ENSP00000282516.8:p.Ile1206del | |
| ENST00000652901.1:c.3616_3618del | ENSP00000499536.1:p.Ile1206del | |
| ENST00000282516.12:c.3616_3618del | ENSP00000282516.8:p.Ile1206del | |
| ENST00000448238.2:c.3616_3618del | ENSP00000406266.2:p.Ile1206del | |
| ENST00000621733.1:c.1-63548_1-63546del | ENSP00000480694.1:n.1-63548_1-63546del | |
| NM_015384.4:c.3616_3618del | NP_056199.2:p.Ile1206del | |
| NM_133433.3:c.3616_3618del | NP_597677.2:p.Ile1206del | |
| XM_005248280.2:c.3616_3618del | XP_005248337.1:p.Ile1206del | |
| XM_005248282.3:c.2872_2874del | XP_005248339.2:p.Ile958del | |
| XM_006714467.2:c.3616_3618del | XP_006714530.1:p.Ile1206del | |
| XM_006714468.1:c.3418_3420del | XP_006714531.1:p.Ile1140del | |
| XM_011514014.1:c.3235_3237del | XP_011512316.1:p.Ile1079del | |
| XM_011514015.1:c.3616_3618del | XP_011512317.1:p.Ile1206del | |
| XM_005248280.3:c.3616_3618del | XP_005248337.1:p.Ile1206del | |
| XM_005248282.5:c.2956_2958del | XP_005248339.3:p.Ile986del | |
| XM_006714468.2:c.3418_3420del | XP_006714531.1:p.Ile1140del | |
| XM_017009329.1:c.3616_3618del | XP_016864818.1:p.Ile1206del | |
| XM_017009330.2:c.1999_2001del | XP_016864819.1:p.Ile667del | |
| XM_017009331.1:c.1990_1992del | XP_016864820.1:p.Ile664del | |
| NM_133433.4:c.3616_3618del MANE Select | NP_597677.2:p.Ile1206del | |
| NM_015384.5:c.3616_3618del | NP_056199.2:p.Ile1206del |